Ｐｒｏｇｒａｍ

Presidential Lecture
Presidential Lecture
Date
Chair
PR

：Thursday, October 12, 2023 9:20 ～ 9:50 Room A（Cosmos, 3F, Toshi Center Hotel）：Thanyachai Sura（‌Mahidol University, Thailand）

Let us treasure and share our exceptions: Story on PDGFRB activating variants‌Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine, Japan

Plenary Lecture
Plenary Lecture 1
Date
Chair
PL1

：Thursday, October 12, 2023 13:00 ～ 13:50 Room A（Cosmos, 3F, Toshi Center Hotel）：Masayuki Yoshida（‌Tokyo Medical and Dental University, Japan）

The expanding role of genetics in the care of patients with rare disorders‌Robert L. Nussbaum
Invitae Corporation, USA / University of California, San Francisco, USA

Plenary Lecture 2
Date
Chair

PL2

Nobel Prize Laureate Lecture：Friday, October 13, 2023 13:10 ～ 14:00 Room A（Cosmos, 3F, Toshi Center Hotel）：Katsushi Tokunaga（‌Genome Medical Science Project, National Center for Global Health and Medicine,Japan）

About Neandertals, Denisovans, and modern humans‌Svante Pääbo
Max Planck Institute for Evolutionary Anthropology, Germany / Okinawa Institute of Science and Technology,
Japan

Plenary Lecture 3
Date
Chair
PL3

：Saturday, October 14, 2023 9:40 ～ 10:20 Room A（Cosmos, 3F, Toshi Center Hotel）：Johji Inazawa（‌Tokyo Medical and Dental University, Japan）

40 years of human genetics, genomics, genetic variations and precision medicine‌Yusuke Nakamura
National Institutes of Biomedical Innovation, Health and Nutrition, Japan

Plenary Lecture 4
Date
Chair
PL4

：Saturday, October 14, 2023 10:20 ～ 11:00 Room A（Cosmos, 3F, Toshi Center Hotel）：Kenjiro Kosaki（‌Center for Medical Genetics, Keio University School of Medicine, Japan）

Therapeutic gene editing for cardiovascular and metabolic diseases: From thelaboratory bench to the clinic‌Kiran Musunuru
Perelman School of Medicine at the University of Pennsylvania, USA

47

Plenary Lecture 5
Date
Chair
PL5

：Saturday, October 14, 2023 11:00 ～ 11:40 Room A（Cosmos, 3F, Toshi Center Hotel）：Kenjiro Kosaki（‌Center for Medical Genetics, Keio University School of Medicine, Japan）

Innovative approach for implementation of Genomic Medicine in Health Systems‌Borut Peterlin
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Slovenia

Translating human genetics and genomics into the future:
Foresights, hurdles and global co-operation
Translating human genetics and genomics into the future:
Foresights, hurdles and global co-operation
Date：Friday, October 13, 2023 14:00 ～ 16:00 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Poh San Lai（‌National University of Singapore, Singapore）
Kenjiro Kosaki（‌Center for Medical Genetics, Keio University School of Medicine, Japan）
Following Professor Pääbo's presentation on human evolution and population genetics, the Global Forum will host a discussion on
the future of human genomics. As we learn from ancient DNA, embrace current technological advances, and apply knowledge ofhuman genetics to translational medicine, we also want to take a step forward to anticipate and prepare for a brave new future where
genomic technologies and information are accessible to all people in all countries. What would we do then? What would we expect?

JS-1‌Kym Boycott
University of Ottawa, Canada

JS-2‌Brian H.Y. Chung
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong,
Hong Kong

JS-3‌Chae Jong Hee
Seoul National University Hospital, Korea

JS-4‌Kiran Musunuru
Perelman School of Medicine at the University of Pennsylvania, USA

JS-5‌Kaori Muto
Department of Public Policy, HGC, IMSUT, Japan

JS-6‌Robert L. Nussbaum
Invitae Corporation, USA

JS-7‌Borut Peterlin
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Slovenia

48

JS-8

‌Zornitza Stark
Australian Genomics, Australia

JS-9‌Thanyachai Sura
Mahidol University, Thailand

JS-10‌Xianjun Zhu
Sichuan Provincial People's Hospital, China

Symposium
Symposium 1

Therapeutics (DNA, mRNA, genome editing, others)

Date：Thursday, October 12, 2023 10:10 ～ 11:40 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Xianjun Zhu（‌Sichuan Provincial People's Hospital, China）
Tatsushi Toda（‌Graduate School of Medicine, The University of Tokyo, Japan）
SY1-1

Current status and future prospects of gene therapy for inherited diseases‌Masafumi Onodera
National Center for Child Health and Development, Japan

SY1-2

Genome editing and iPS therapy for muscular dystrophies‌Akitsu Hotta
Center for iPS Cell Research and Application, Kyoto University, Japan

SY1-3

Precise Gene Editing in Rare Diseases‌Sangsu Bae
Seoul National University College of Medicine, Korea

SY1-4

Gene therapy for adult neuromuscular diseases‌Tatsushi Toda
Graduate School of Medicine, The University of Tokyo, Japan

Symposium 2

Cancer Genomics, Germline

Date：Thursday, October 12, 2023 10:10 ～ 11:40 Room B（Orion, 5F, Toshi Center Hotel）
Chairs ：Joanne Ngeow（‌National Cancer Centre, Singapore / Lee Kong Chian School of Medicine, Nanyang
Technological University, Singapore / Cancer Genetics Service, National Cancer Centre,
Singapore）
Motohiro Kato（‌The University of Tokyo, Japan）
SY2-1

Issues related to germline predisposition in adult/AYA patients with haematologicaldisorders‌Mizuki Watanabe1,2
1
2

‌
Kyoto
University Hospital, Japan‌National Cancer Center Hospital of Japan, Japan49

SY2-2

Exploring hereditary cancer syndromes in the era of cancer genomic medicine‌Makoto Hirata
National Cancer Center Hospital, Japan

SY2-3

Cancer Predisposition in Singapore: Insights from the SG10K study‌Joanne Ngeow1,2,3
1
2
3

SY2-4

‌
National
Cancer Centre, Singapore‌Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore‌Cancer Genetics Service, National Cancer Centre, Singapore

Predisposition to secondary cancer‌Motohiro KatoThe University of Tokyo, Japan

Symposium 3

Newborn Screening

Date：Thursday, October 12, 2023 10:10 ～ 11:40 Room C（606, 6F, Toshi Center Hotel）
Chairs ：Duangrurdee Wattanasirichaigoon（‌Faculty of Medicine Ramathibodi Hospital, Mahidol University,
Thailand）
Torayuki Okuyama（‌Saitama Medical University, Japan）
SY3-1

Optional newborn screening for lysosomal storage diseases‌Torayuki Okuyama
Saitama Medical University, Japan

SY3-2

Newborn screening for primary immunodeficiency in Japan‌Kohsuke ImaiNational Defense Medical College, Japan

SY3-3

Maple syrup urine disease screening in the Philippines‌Catherine Lynn T. Silao
Institute of Human Genetics, National Institutes of Health; College of Medicine and Philippine General Hospital,
University of the Philippines Manila, Philippines

SY3-4

Newborn screening and early detection of inborn errors of metabolism: Lessons from
Taiwan‌Yin-Hsiu Chien
Department of Medical Genetics, National Taiwan University Hospital, Taiwan

Symposium 4

COVID-19 Susceptibility

Date：Thursday, October 12, 2023 10:10 ～ 11:40 Room D（701, 7F, Toshi Center Hotel）
Chairs ：Namkoong Ho（‌Department of Infectious Diseases, Keio University School of Medicine, Japan）
Yukinori Okada（‌Graduate School of Medicine, The University of Tokyo, Japan / Osaka University Graduate
School of Medicine, Japan / RIKEN Center for Integrative Medical Sciences, Japan）
SY4-1

Genome analysis of the virus in sewage shows the actual situation of infection
epidemic of SARS-CoV-2 strains‌Seiya Imoto
The Institute of Medical Science, The University of Tokyo, Japan50

SY4-2

Trans-omics analysis for COVID-19 biology‌Yukinori Okada1,2,3
1
2
3

SY4-3

‌
Graduate
School of Medicine, The University of Tokyo, Japan‌Osaka University Graduate School of Medicine, Japan‌RIKEN Center for Integrative Medical Sciences, Japan

Severe COVID-19 associate with impaired host immunity‌Satoshi Okada
Hiroshima University Graduate School of Biomedical and Health Sciences, Japan

SY4-4

Elucidating the mechanism of COVID-19 severity by integrative analysis of single-celland host genetics data‌Ryuya Edahiro
Osaka University, Japan

Symposium 5

Pediatric Genetics / Congenital Malformation

Date：Thursday, October 12, 2023 16:00 ～ 17:30 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Eva Maria Cutiongco-de la Paz（‌Institute of Human Genetics, National Institutes of Health, University of thePhilippines, Philippines）
Yoko Aoki（‌Tohoku University School of Medicine, Japan）
SY5-1

Transforming neonatal and pediatric care through genomic medicine‌Brian H.Y. Chung1,2
1
2

SY5-2

‌
Departmentof Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong
Kong, Hong Kong
‌Hong Kong Genome Institute, Hong Kong

Recent progress in RASopathies‌Yoko Aoki, Taiki Abe, Tetsuya Niihori
Tohoku University School of Medicine, Japan

SY5-3

Discovery and delineation of EXOC6B-related spondyloepimetaphyseal dysplasia withjoint laxity‌Katta Girisha1,3, Hitesh Shah2, Gandham SriLakshmi Bhavani1
1
2
3

SY5-4

‌
Departmentof Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education,
Manipal, India‌Department of Pediatric Orthopedics, Kasturba Medical College, Manipal, Manipal Academy of Higher
Education, Manipal, India‌Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman

Goldfish morphological diversity: Elucidate the mechanisms of congenital anomalies
using non-human models‌Tetsuo Kon
University of Vienna, Austria

51

Symposium 6

Cancer Genomics, Somatic

Date：Thursday, October 12, 2023 16:00 ～ 17:30 Room B（Orion, 5F, Toshi Center Hotel）
Chairs ：Young Seok Ju（‌Korea Advanced Institute of Science and Technology (KAIST), Korea / Genome Insight Inc.,
Korea）
Issei Imoto（‌Aichi Cancer Center Research Institute, Japan）
SY6-1

Polygenic germline effects on cancer somatic alterations‌Shinichi Namba1,2
1
2

SY6-2

‌
Osaka
University Graduate School of Medicine, Japan‌Graduate School of Medicine, The University of Tokyo, Japan

Mutational signatures and their associations with cancer etiology and phenotypes‌Hidewaki Nakagawa
RIKEN Center for Integrative Medical Sciences, Japan

SY6-3

Muliti-omic analyses to detemine molecular characteristics of colorectal cancer‌Hiromichi Ebi, Rui Yamaguchi
Aichi Cancer Center Research Institute, Japan

SY6-4

Widespread somatic L1 retrotransposition in normal colorectal epithelium‌Young Seok Ju1,2
12

Symposium 7
Date
Chair

‌
Korea
Advanced Institute of Science and Technology (KAIST), Korea‌Genome Insight Inc., Korea

Aging and Diseases：Thursday, October 12, 2023 16:00 ～ 17:30 Room C（606, 6F, Toshi Center Hotel）：Kouichi Ozaki（‌Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology,
Japan）

SY7-1

Comparative genomics reveals that a gut ceramidase activity determines the rate ofsystemic aging‌Tohru Ishitani
Osaka University, Japan

SY7-2

Genetics and epigenetics of exceptional longevity: Lessons from centenarians in Japan‌Yasumichi Arai, Takashi Sasaki
Keio University School of Medicine, Japan

SY7-3

Susceptibility genes for dementia: Focusing on APOE‌AkinoriMiyashita, Norikazu Hara, Ai Obinata, Tamao Tsukie, Mai Hasegawa, Kensaku Kasuga,
Takeshi Ikeuchi
Brain Research Institute, Niigata University, Japan

SY7-4

Genomic research on dementia in the Japanese population‌Daichi Shigemizu1,2,3, Kouichi Ozaki1,2,3
1
2
3

‌
National
Center for Geriatrics and Gerontology, Japan‌Hiroshima University Graduate School of Biomedical and Health Sciences, Japan‌RIKEN Center for Integrative Medical Sciences, Japan52

Symposium 8

Hemoglobinpathies

Date：Thursday, October 12, 2023 16:00 ～ 17:30 Room D（701, 7F, Toshi Center Hotel）
Chairs ：Zilfalil Bin Alwi（‌School of Medical Sciences, Universiti Sains Malaysia, Malaysia）
Hiroki Kurahashi（‌Division of Molecular Genetics, Center for Medical Science, Fujita Health University,
Japan）
SY8-1

Empowering Asia through the Global Globin Network: Harnessing genomic
advancements in hemoglobinopathies‌Zilfalil Bin Alwi
School of Medical Sciences, Universiti Sains Malaysia, Malaysia

SY8-2

Hemoglobinopathies in Japan‌Yukio Hattori
Saiseikai Yamaguchi General Hospital, Japan

SY8-3

Preimplantation genetic testing (PGT-M) for thalassemia‌Canquan Zhou
Former, Reproductive Medicine Center, First Affiliated Hospital of Sun Yat-sen University, China

SY8-4

Roles of transcription factors and chromatin remodelers in regulation of erythroid gene
expression‌Xiang Guo1,2,3, Ann Dean3123

Symposium 9‌Schoolof Medicine, University Electronic Science and Technology China‌Department of Hematology, Sichuan Academy of Medical Science and Sichuan Provincial People's Hospital,
Chengdu, 610072, China‌Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney
Diseases, National Institutes of Health, Bethesda, Maryland, USA

Omics/ Sequencing Technologies

Date：Friday, October 13, 2023 10:10 ～ 11:40 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Hirotomo Saitsu（‌Department of Biochemistry, Hamamatsu University School of Medicine, Japan）
Akihiro Fujimoto（‌Department of Human Genetics, Graduate School of Medicine, The University of Tokyo,
Japan）
SY9-1

Long read genomics dissecting genetic variants in rare diseases‌Naomichi Matsumoto
Yokohama City University Graduate School of Medicine, Japan

SY9-2

Solving variants of unknown significance with deep learning‌Kyle Kai-How Farh
Illumina, USA

SY9-3

Spatial analysis to reveal the cancer microenviroments‌Yutaka Suzuki
Department of Computational Biology and Medical Sciences, The University of Tokyo, Japan

SY9-4

Dynamics of chromatin organization at enhancers mediated by CTCF and KMT2C/D
during cell differentiation‌Naoki Kubo1, Bing Ren2
12

‌MedicalInstitute of Bioregulation, Kyushu University, Japan‌Department of Cellular and Molecular Medicine, University of California San Diego School of Medicine, USA53

Symposium 10

Prenatal Genetics

Date：Friday, October 13, 2023 10:10 ～ 11:40 Room B（Orion, 5F, Toshi Center Hotel）
Chairs ：Chanane Wanapirak（‌Department of Obstetrics and Gynecology, Chiang Mai University, Thailand）
Kiyonori Miura（‌Department of Obstetrics and Gynecology, Nagasaki University Graduate School of
Biomedical Sciences, Japan）
SY10-1

Fetal ultrasonography and genetics‌Mayumi Tokunaka
Showa University, Japan

SY10-2Cell-free fetal nucleic acids‌Chen Ming
Changhua Christian Hospital, and National Chung Shing University, Taiwan

SY10-3

NIPT for Thalassemia‌Chanane Wanapirak
Department of Obstetrics and Gynecology, Chiang Mai University, Thailand

SY10-4Prenatal fetal exome sequencing in one medical center in Israel: The Promise and its
application‌Orit Reish1,2
12

Symposium 11‌ Aviv University, Israel
Tel‌Medical Genetics Institute, Shamir Medical Center, Zerifin, Israel

Non-coding Regulatory Elements / ncRNA / miRNA / other RNAs

Date
：Friday, October 13, 2023 10:10 ～ 11:40 Room C（606, 6F, Toshi Center Hotel）
Chairs ：Piero Carninci（‌RIKEN Center for Integrative Medical Science(IMS), Japan / Fondazione Human Technopole,
Italy）
Masao Nagasaki（‌Medical Institute of Bioregulation, Kyushu University, Japan）
SY11-1

Understanding the complex patterns of DNA modification in cancer‌Genta Nagae
Research Center for Advanced Science and Technology, The University of Tokyo, Japan

SY11-2

Inferring function of lncRNAs through interactome with chromatin‌
Piero
Carninci1,2, Hazuki Takahashi1, Masaki Kato1, Takeya Kasukawa1, Chi Wai Yip1,
Chung Chau Hon1, Miki Kojima1, Jay Shin1,3, Hiromi Sueki-Nishiyori1, Harshita Sharma1,
Mitsuyoshi Murata1, Sachi Kato1, Aslihan Karabacak Calviello1,2, Rodrigo Pracana1,2, Laura Carpen1,2,
Beatrice Bodega4, Valeria Ranzani4, Magda Bienko1,2,5, Wenjing Kang1,5
1
2
3
4
5

SY11-3‌
RIKEN
Center for Integrative Medical Science(IMS), Japan‌Fondazione Human Technopole, Italy‌Agency for Science, Technology and Research (A*STAR), Singapore‌Istituto Nazionale di Genetica Molecolare, Italy‌Karolinska Institutet, Sweden

Mobile element variation contributes to population-specific genome diversification,
gene regulation, and disease risk
‌Shohei  Kojima, Nicholas Parrish
RIKEN IMS, Japan

SY11-4

Functional noncoding variants in 15q26.1 cause familial non-autoimmune thyroid
abnormalities‌Satoshi Narumi
Keio University, Japan54

Symposium 12

Genomic Risk Assessment: Towards Preventive Medicine

Date：Friday, October 13, 2023 10:10 ～ 11:40 Room D（701, 7F, Toshi Center Hotel）
Chairs ：Hie Lim Kim（‌Nanyang Technological University, Singapore）
Yukinori Okada（‌Graduate School of Medicine, The University of Tokyo, Japan / Osaka University Graduate
School of Medicine, Japan / RIKEN Center for Integrative Medical Sciences, Japan）
SY12-1

Polygenic risk score for precision medicine of east Asians‌Yukinori Okada1,2,3
1
2
3

SY12-2‌Graduate
School of Medicine, The University of Tokyo, Japan‌Osaka University Graduate School of Medicine, Japan‌RIKEN Center for Integrative Medical Sciences, Japan

Patient-centric stratified drug therapy based on pharmacogenomic testing‌Taisei Mushiroda
RIKEN, Japan

SY12-3

The GenomeAsia 100K project: Unrevealing genetic diversity and history of Asian
populations‌Hie Lim Kim
Nanyang Technological University, Singapore

SY12-4

Can genetic variants be diagnostic discriminatory markers for schizophrenia andbipolar disorder?
‌Kazutaka Ohi
Gifu University Graduate School of Medicine, Japan

Symposium 13

Databases / Data sharing / Biobank

Date：Friday, October 13, 2023 16:40 ～ 18:20 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Zornitza Stark（‌Australian Genomics, Australia）
Soichi Ogishima（‌The Advanced Research Center for Innovations in Next-Generation Medicine(INGEM),
Japan / Tohoku Medical Megabank Organization, Tohoku University, Japan）
SY13-1

Biobank information platform for R&D of genomic medicine in Japan‌Soichi Ogishima1,2
1
2

SY13-2‌The
Advanced Research Center for Innovations in Next-Generation Medicine(INGEM), Japan‌Tohoku Medical Megabank Organization, Tohoku University, Japan

Omics analysis and data sharing in Biobank Japan‌Koichi Matsuda
The University of Tokyo, Japan

SY13-3

The GenomeAsia 100K project: Advancing human genetic studies in Asian populations‌Hie Lim Kim
Nanyang Technological University, Singapore

SY13-4

Challenges, enablers and opportunities in rare disease research‌Tiong Yang Tan1,2,3, Michelle G. de Silva1,2, Katrina Bell2,3, Lyndon Gallacher1,2,3, Rocio Rius2,3,
Kirsten Allan1,2, Natasha J Brown1,2,3, Natalie B Tan1,2,3, Smitha Kumble1,2,3, Russell Gear1,2,3,
Cas Simons2,3,4, David Stroud2,3, David Thorburn1,2,3, John Christodoulou1,2,3, Susan M White1,2,3
1
2
3
4

‌
Victorian
Clinical Genetics Services, Melbourne, Australia‌Murdoch Children’s Research Institute, Melbourne, Australia‌Department of Paediatrics, University of Melbourne, Melbourne, Australia‌Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, Australia and Garvan
Institute, Sydney, Australia

55

SY13-5

Human Genome Projects in Ethnically-Diverse Indonesian Populations‌Herawati Sudoyo, Pradiptajati Kusuma, Safarina G. Malik, Isabella Apriyana
Genome Diversity and Diseases Division, Mochtar Riady Institute for Nanotechnology, Indonesia

SY13-6Integrating whole genome sequencing into national health data warehouse‌Surakameth Mahasirimongkol
Office of Permanent Secretary, Ministry of Public Health, Thailand

SY13-7

Databases of rare genetic diseases in Vietnam‌Vu Dung
Vietnam National Children's Hospital, Vietnam

SY13-8The FILIPINOme: The Filipino Genome Sequencing Project‌Eva Maria Cutiongco-de la Paz
Institute of Human Genetics, National Institutes of Health, Philippine Genome Center University of the Philippines,
Philippines

Symposium 14‌Comprehensive Management of Differences of Sex Development (DSD);
Lessons from Genetics

Date：Friday, October 13, 2023 16:40 ～ 18:10 Room B（Orion, 5F, Toshi Center Hotel）
Chairs ：Sultana Faradz（‌Faculty of Medicine, Diponegoro University and Universitas Yarsi, Indonesia / Faculty of
Medicine, Diponegoro University and School of Post Graduate Program Universitas YARSI,
Indonesia）
Tomonobu Hasegawa（‌Keio University School of Medicine, Japan）
SY14-1

Molecular mechanism of sex development and genetic diagnosis of DSD‌Tomohiro Ishii
Keio University School of Medicine, Japan

SY14-2

Collaborative study of multidisciplinary care for differences of sex development Patients‌Sultana Faradz1,2, Katie Ayers3, Stenvert Drop4, Andrew Sinclair31
2
3
4

SY14-3‌
Facultyof Medicine, Diponegoro University and Universitas Yarsi, Indonesia‌Faculty of Medicine, Diponegoro University and School of Post Graduate Program Universitas YARSI, Indonesia‌Murdoch Children's Research Institute, Melbourne, Australia‌Division of Endocrinology, Department of Pediatrics, Sophia Children's Hospital / Erasmus University Medical
Centre Rotterdam, The Netherlands

Individualized care for patients with difference of sex development; Multidisciplinary
team approach‌Masanobu Kawai
Osaka Women's and Children's Hospital, Japan

SY14-4Current status of uterus transplantation‌Iori Kisu
Department of Obstetrics and Gynecology, Keio University School of Medicine, Japan56

Symposium 15

Bioinformatics

Date：Friday, October 13, 2023 16:40 ～ 18:10 Room C（606, 6F, Toshi Center Hotel）
Chairs ：Poh San Lai（‌National University of Singapore, Singapore）
Kazuhiko Nakabayashi（‌National Center for Child Health and Development (NCCHD), Japan）
SY15-1

MOVA: A method of missense variant pathogenicity using AlphaFold2‌Tomohiko Ishihara, Yuya Hatano, Osamu Onodera
Department of Neurology, Brain Research Institute, Niigata University, Japan

SY15-2Large-scale computational genomics: Tools for decoding genomic features‌Ryuichiro Nakato
Laboratory of Computational Genomics, Institute for Quantitative Biosciences, The University of Tokyo, Japan

SY15-3Population-specific reference genome and rapid WGS analyses for rare diseases‌Jun Takayama
Tohoku University, Japan

SY15-4ETCHING: Ultrafast prediction of somatic structural variations by filtering out reads
matched to pan-genome k-mer sets
‌Jin-Wu Nam1,2,3
1
23

Symposium 16‌BIGLab, South Korea‌Department of Life Science, Hanyang University, Seoul, South Korea‌HY Institute of Bioscience and Biotechnology, Hanyang University, Seoul, South Korea

Genetics of Complex Diseases

Date：Friday, October 13, 2023 16:40 ～ 18:10 Room D（701, 7F, Toshi Center Hotel）
Chairs ：Stephen Lam（‌The Hong Kong Sanatorium and Hospital, Hong Kong）
Yoichiro Kamatani（‌The University of Tokyo, Japan）
SY16-1

Autoimmunity pathology elucidated by functional genetics studies‌Kazuyoshi Ishigaki
RIKEN Center for Integrative Medical Sciences, Japan

SY16-2

Genomic analysis and polygenic score application in cardiovascular diseases‌Kaoru Ito
RIKEN Center for Integrative Medical Sciences, Japan

SY16-3

Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutationsin intracranial aneurysms‌Hirofumi Nakatomi1,2,3
1
2
3

SY16-4‌
Biomedical
Neural Dynamics Collaboration Laboratory, RIKEN Center for Brain Science, Wako, Saitama, Japan‌Department of Neurosurgery, Faculty of Medicine, Kyorin University, Mitaka, Tokyo, Japan‌Department of Neurosurgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

Digital Patients and Virtual Trials for Target Identification and Evaluation‌Hao Li
China National Research Center for Neurological Diseases, China

57

Symposium 17

Rare and Undiagnosed Diseases

Date：Saturday, October 14, 2023 8:00 ～ 9:30 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Chae Jong Hee（‌Seoul National University Hospital, Korea）
Toshiki Takenouchi（‌Keio University School of Medicine, Japan）
SY17-1

Identification of a new causative gene in cardiomyopathy, elucidation of molecularmechanisms, and functional analysis‌Yoshihiro Asano1,2
1
2

SY17-2‌
National
Cerebral and Cardiovascular Center, Japan‌Osaka University Graduate School of Medicine, Japan

Long-read sequencing in rare diseases‌Vorasuk Shotelersuk1,2
1
2

SY17-3‌
Departmentof Pediatrics, King Chulalongkorn Memorial Hospital, Thailand‌Center of Excellence for Medical Genomics, Faculty of Medicine, Chulalongkorn University, Thailand

J-RDMM and the study of rare and undiagnosed diseases using zebrafish‌Koichi Kawakami1, Hideyuki Tanabe1, Yuri Uchiyama2, Naomichi Matsumoto2
1
2

SY17-4‌
National
Institute of Genetics, Japan‌Yokohama City University, JapanThe journey of undiagnosed disease program in Korea: From pilot project to K-UDP
and beyond‌Chae Jong Hee1,212

Symposium 18‌Departmentof Genomic Medicine, Seoul National University Hospital‌Department of Pediactics, Seoul National University College of Medicine, Seoul Korea

Ethical, Legal and Social Implications

Date：Saturday, October 14, 2023 8:00 ～ 9:30 Room B（Orion, 5F, Toshi Center Hotel）
Chairs ：Vajira H.W. Dissanayake（‌Department of Anatomy, Faculty of Medicine, University of Colombo, Sri Lanka）
Masayuki Yoshida（‌Tokyo Medical and Dental University, Japan）
SY18-1

Framework for a genomic medicine society‌Masayuki Yoshida
Tokyo Medical and Dental University, Japan

SY18-2

Ethical issues involved in explaining the results of genomic information‌Kyoko Takashima
National Center for Global Health and Medicine, Japan

SY18-3

Ethical considerations in genomic medicine in South Korea‌Ock-Joo Kim1, Yoon-Jung Chang2
1
2

SY18-4‌Departmentof Medical History and Medical Humanities, Seoul National University College of Medicine, South
Korea‌ELSI branch, Research Institute, National Cancer Center, South Korea

Focusing attention on ancestral diversity in genomic research and service provision‌Vajira Dissanayake1,2
12‌Departmentof Anatomy, Faculty of Medicine, University of Colombo, Sri Lanka‌Global Genomic Medicine Collaborative, Sri Lanka

58

Symposium 19

Neurologic Disorders-Diagnostic Perspectives

Date：Saturday, October 14, 2023 8:00 ～ 9:30 Room C（606, 6F, Toshi Center Hotel）
Chairs ：Christian Gilissen（‌Radbound University, The Netherlands）
Hiroyuki Ishiura（‌Department of Neurology, Okayama University, Japan）
SY19-1

Improving the diagnosis of rare neurodevelopmental disorders‌Christian Gilissen
Radbound University, The Netherlands

SY19-2Whole-genome sequencing provides insights into the aetiology of neurodevelopmental
disorders‌Kohei Hamanaka1,2
1
2

SY19-3‌
Kyoto
University, Japan‌Yokohama City University, Japan

Common and rare Parkinson's disease risk variants in East Asians‌Jia Nee FooNanyang Technological University, Singapore

SY19-4

Recombination of repeat elements generates somatic complexity in human genomes‌
Giovanni
Pascarella1, Chung Chau Hon1, Kosuke Hashimoto2, Annika Busch1, Joachim Luginbuhl1,
Callum Parr1, Wing Hin Yip1, Kazumi Abe3, Anton Kratz4, Alessandro Bonetti5, Federico Agostini5,
Jessica Severin1, Shigeo Murayama6, Yutaka Suzuki3, Stefano Gustincich7, Martin Frith3,
Piero Carninci8
1
2
3
4
5
6
7
8

Symposium 20‌
RIKEN,
Japan‌University of Osaka, Japan‌University of Tokyo, Japan‌Systems Biology Institute, Tokyo, Japan‌Karolinska Institutet, Stockholm, Sweden‌Tokyo Metropolitan Geriatrics and Gerontology Center, Japan‌Italian Institute of Technology, Italy‌Human Technopole, Milan, Italy‌HGA 2023 Genetic Counseling Programs
Session1: Professional Development Issues including Education and Training
Updates

Date：Saturday, October 14, 2023 8:00 ～ 9:30 Room D（701, 7F, Toshi Center Hotel）
Chairs ：Mercy Laurino（‌Cancer Genetics and Prevention, USA / MS Genetic Counseling Program, Fred Hutchinson
Cancer Center, University of the Philippines Manila, Philippines）
Junko Yotsumoto（‌Patient Awareness & Diagnosis, Market Access Public Affairs & Patient Experience,
Japan Pharma Business Unit, Takeda Pharmaceutical Company, Japan）
SY20-1Developing a career pathway for genetic counsellors‌Breana Cham
KK Women's and Children's Hospital, Singapore

SY20-2

Challenges in implementing an effective Genetic Counseling Programme – Indian
Scenario‌Q Annie Hasan
Dept. of Genetics and Molecular Medicine Kamineni Hospitals, Hyderabad, India

59

SY20-3

Japanese CGC development from the Japanese Association of Certified Genetic
Counselors Biennial Survey in 2022
‌ManamiMatsukawa, Nana Akiyama, Ayumi Abe, Momoko Kato, Mikiko Kaneko, Mari Kikuchi,
Sawako Matsuzaki, Mami Morita, Saki Shimada, Eriko Takamine, Asuka Toshida, Mari Tsubata,Junko Yotsumoto
The Japanese Association of Certified Genetic Counselors Survey and Research Committee, Japan

SY20-4

Genetic counselor workforce: Current status and future perspectives‌Masakazu Nishigaki
International University of Health and Welfare, Japan

Symposium 21‌HGA 2023 Genetic Counseling Programs
Session2: From clinical practice -Challenges in Sharing Genetic Information
within Families and GC practice issues

Date：Saturday, October 14, 2023 13:40 ～ 15:10 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Juliana Lee（‌Genetic Counselling Asia, Professional Society of Genetic Counselors in Asia, Asia PacificSociety of Human Genetics, Genetic Counselling Society Malaysia, Malaysia）
Yasue Horiuchi（‌Shizuoka Graduate University of Public Health, Japan）
SY21-1

Communicating genetic information with families: Models, policies, and use oftechnology‌Peter Abad1,2
1
2

SY21-2‌
Universityof the Philippines Manila, Philippines‌University of Iowa, USA

Connecting generations: Bridging families with genetic information‌Jingyi Dong1,2
1
2

SY21-3‌Tokyo
Medical University Hospital, Japan‌Ochanomizu University, Japan

Disclosing information about diagnosis and conditions to children with genetic
disorders and their siblings‌Mikiko Kaneko
The Jikei University Hospital, Japan

SY21-4

Enhancing clinical genetic counselling through education: opportunities forcollaborative approaches‌Alison McEwen
FHGSA(Genetic Counselling) Graduate School of Health, University of Technology Sydney, Sydney, Australia

Symposium 22

Inherited Metabolic Diseases

Date：Saturday, October 14, 2023 13:40 ～ 15:10 Room B（Orion, 5F, Toshi Center Hotel）
Chairs ：Meow-Keong Thong（‌University of Malaya, Malaysia）
Kimihiko Oishi（‌Department of Pediatrics, The Jikei University School of Medicine, Japan）
SY22-1

Recent advances in treatment of lysosomal storage diseases‌Motomichi Kosuga
National Center for Child Health and Development, Japan

SY22-2Current status of mitochondrial disease clinical practice‌Kei Murayama
Juntendo University Faculty of Medicine, Japan60

SY22-3

Research and development of gene therapy for lysosomal storage diseases‌Hiroshi Kobayashi
The Jikei University School of Medicine, Japan

SY22-4

Inborn errors of metabolism in adults‌Thanyachai Sura
Mahidol University, Thailand

Symposium 23

Neurologic Diseases-Therapeutic Perspectives

Date：Saturday, October 14, 2023 13:40 ～ 15:10 Room C（606, 6F, Toshi Center Hotel）
Chairs ：Mariko Taniguchi-Ikeda（‌Fujita Health Universtiy Hospital, Japan）
Kazuhiro Muramatsu（‌Jichi Medical University, Japan）
SY23-1Development of gene therapy for neuromuscular disorders‌Kazuhiro Muramatsu
Jichi Medical University, Japan

SY23-2

Recent advances in repeat expansion diseases and the future potential of genetherapy‌Hiroyuki Ishiura
Okayama University, Japan

SY23-3Finding cures for Fukuyama muscular dystrophy‌Mariko Taniguchi-Ikeda
Fujita Health Universtiy Hospital, Japan

SY23-4

A novel dual-targeting antisense oligonucleotide, NS-089/NCNP-02, for exon 44
Skipping in Duchenne muscular dystrophy‌Yoshitsugu Aoki
National Center of Neurology and Psychiatry, Japan

Sponsored Symposium by Myriad Genetics G.K.
Sponsored Symposium by Myriad Genetics G.K.
The large-scale genetic analysis and data sharing in East Asia for hereditary tumors
Date：Thursday, October 12, 2023 13:50 ～ 15:20 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Mercy Laurino（‌Cancer Genetics and Prevention, USA / MS Genetic Counseling Program, Fred Hutchinson
Cancer Center, University of the Philippines Manila, Philippines）
Yoshio Miki（‌University of Tsukuba Research and Development Center for Precision Medicine, Japan）
SS-1

The importance of large-scale genetic analysis in each area and population for its
personalized medicine‌Yukihide Momozawa
RIKEN, Japan

SS-2

Cancer Genetics and Testing: Importance of Genetic Counseling‌Mercy Laurino1,2
1
2

‌
Fred
Hutchinson Cancer Center, USA‌University of the Philippines Manila, Philippines

61

SS-3

Genetic on Hereditary Breast and Ovarian Cancers in Hong Kong
‌Ava Kwong
School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong-Kong, Hong Kong

Oral Presentation Award Session
Oral Presentation Award Session
Date：Friday, October 13, 2023 8:40 ～ 9:50 Room A（Cosmos, 3F, Toshi Center Hotel）
Chairs ：Brian H.Y. Chung（‌Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The
University of Hong Kong, Hong Kong）
Naomichi Matsumoto（‌Department of Human Genetics, Yokohama City University Graduate School of
Medicine, Yokohama, Japan）
BO-1

Body mass index stratification improves polygenic prediction of type 2 diabetes intrans-biobank analysis‌Takafumi Ojima1, Shinichi Namba1, Ken Suzuki1,3, Kyuto Sonehara1,6, Kenichi Yamamoto1,4,5,
Akira Narita7, The Tohoku Medical Megabank Project Study Group7, The Biobank Japan Project8,
Yoichiro Kamatani9, Gen Tamiya2,7,10, Masayuki Yamamoto2,7, Toshimasa Yamauchi3,
Takashi Kadowaki11, Yukinori Okada1,5,6,12
1 ‌Department of Statistical Genetics, Osaka University, Japan
2 ‌Graduate School of Medicine, Tohoku University, Japan
3 ‌Department of Diabetes and Metabolic Diseases, The University of Tokyo, Japan4 ‌Department of Pediatrics, Osaka University, Japan
5 ‌Laboratory of Statistical Immunology, Osaka University, Japan6 ‌Department of Genome Informatics, The University of Tokyo, Japan
7 ‌Tohoku Medical Megabank Organization, Tohoku University, Japan
8 ‌Institute of Medical Science, The University of Tokyo, Japan
9 ‌Laboratory of Complex Trait Genomics, The University of Tokyo, Japan10 ‌Center for Advanced Intelligence Project, RIKEN, Japan11 ‌Toranomon Hospital, Japan12 ‌Laboratory for Systems Genetics, RIKEN, Japan

BO-2

The insertion of SVA retrotransposon in deep intron of ATP7A as a novel cause of
occipital horn syndrome‌Naoko Yano1, Takeshi Yoshida1, Chong Pin Fee2,3, Yu Kimura4, Tomoichiro Miyoshi5,
Masahiko Ajiro7, Kengo Kora1, Taisei Kayaki1, Kinuko Nishikawa1, Saeko Sasaki1,
Atsushi Yokoyama1, Masatoshi Hagiwara6, Teruyuki Kondo4, Ryutaro Kira3, Junko Takita1
1
2
3
4
5
6
7

BO-3

‌
Departmentof Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan‌Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Kyoto, Japan‌Department of Pediatric Neurology, Fukuoka Children’s Hospital, Fukuoka, Japan‌Department of Energy and Hydrocarbon Chemistry, Graduate School of Engineering, Kyoto University, Kyoto,Japan‌Center for Integrative Medical Sciences, RIKEN, Kanagawa, Japan‌Department of Anatomy and Development Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan‌Division of Cancer RNA Research, National Cancer Center Research Institute, Tokyo, JapanA cross-population atlas of genome-wide gene-environment interactions between the
East Asian and European populations‌Shinichi Namba1, Kyuto Sonehara1,2,3, Koichi Matsuda4, Yukinori Okada1,2,3
1
2
3
4

‌
Osaka
University Graduate School of Medicine, Japan‌Graduate School of Medicine, The University of Tokyo, Japan‌RIKEN Center for Integrative Medical Sciences, Japan‌Graduate School of Frontier Sciences, The University of Tokyo, Japan

62

BO-4

Large-scale evaluation of germline variants among 11 thousand gastric cancer patientsand 44 thousand controls‌
YoshiakiUsui1,2,3, Yukari Taniyama2, Mikiko Endo1, Yuriko N. Koyanagi2, Yumiko Kasugai2,4,Isao Oze2, Hidemi Ito2,4, Issei Imoto2, Tsutomu Tanaka2, Masahiro Tajika2, Yasumasa Niwa2,
Yusuke Iwasaki1, Tomomi Aoi1, Nozomi Hakozaki1, Sadaaki Takata1, Kunihiko Suzuki1,
Chikashi Terao1, Masanori Hatakeyama5,6, Makoto Hirata7,8, Kokichi Sugano7,9, Teruhiko Yoshida7,
Yoichiro Kamatani8, Hidewaki Nakagawa1, Koichi Matsuda8, Yoshinori Murakami8,
Amanda B. Spurdle10, Keitaro Matsuo2,4, Yukihide Momozawa1
1 ‌RIKEN Yokohama, Japan
2 ‌Aichi Cancer Center, Japan
3 ‌Okayama University, Okayama, Japan
4 ‌Nagoya University, Nagoya, Japan
5 ‌Institute of Microbial Chemistry, Tokyo, Japan
6 ‌Hokkaido University, Sapporo, Japan
7 ‌National Cancer Center, Tokyo, Japan
8 ‌The University of Tokyo, Tokyo, Japan
9 ‌Kyoundo Hospital, Tokyo, Japan10 ‌QIMR Berghofer Medical Research Institute, Brisbane, Australia

BO-5

The effect of SOX10 expressions in a complex multifactorial Hirschsprung disease‌KhoitulMachis1, Verell Christopher Amadeus1, Fiqih Vidiantoro Halim1, Kristy Iskandar2,
Eko Purnomo1, Gunadi Gunadi1
1
2

BO-6

‌
Pediatric
Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas
Gadjah Mada, Indonesia‌Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada,
Indonesia

SLC10A5 deficiency is a cause of familial intrahepatic cholestasis‌Yuqing Xu1,2,3, Yeqing Qian1,2,3, Minyue Dong1,2,3
1
2
3

BO-7

‌
Zhejiang
University, China‌Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China‌Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, China

Prenatal WES: Experiences from >1400 cases - high diagnostic yield and benefit for
pregnancy management and counseling‌StefanGriesbach1, Martin Ritthaler1, Florian Battke1, Constantin von Kaisenberg2, Holger Lebek3,
Michael Entezami4, Max Wüstemann5, Andreas Schröer3, Saskia Biskup1, Heinz Gabriel1
1
2
3
4
5

‌
CeGaT
GmbH Tübingen, Germany‌Perinatal Center, Medizinische Hochschule Hannover, Germany‌Prenatal Diagnostics Berlin-Lichtenberg, Germany‌Center for Prenatal Diagnostics and Human Genetics Berlin, Germany‌Center for Prenatal Medicine Hannover, Germany

63

Oral Session
Oral Session 1

Complex Diseases and Genomic Risk Assessment

Date：Thursday, October 12, 2023 10:10 ～ 11:40 Room E（706, 7F, Toshi Center Hotel）
Chairs ：Yukihide Momozawa（‌RIKEN Center for Integrative Medical Sciences (IMS), Japan）
Kinya Ishikawa（‌Center for Personalized Medicine for Healthy Aging, Tokyo Medical and Dental University,
Japan）
OS-01-1

East Asian-specific variants in RNF213 confer a penetrating risk of vasospastic angina‌
KeikoHikino1, Satoshi Koyama1, Kaoru Ito1, Yoshinao Koike1,2, Masaru Koido1,3,
Takayoshi Matsumura4, Ryo Kurosawa1, Kohei Tomizuka1, Shuji Ito1,5, Xiaoxi Liu1,6, Yuki Ishikawa1,
Yukihide Momozawa1, Takayuki Morisaki3, Yoichiro Kamatani1,3, The Biobank Japan Project3,
Taisei Mushiroda1, Chikashi Terao1,6,7
1
2
3
4
5
6
7

OS-01-2‌
RIKEN
Center for Integrative Medical Sciences, Japan‌Hokkaido University Graduate School of Medicine, Japan‌The University of Tokyo, Japan‌Jichi Medical University, Japan‌Shimane University Faculty of Medicine, Japan‌Shizuoka General Hospital, Japan‌University of Shizuoka, Japan

Low carnitine palmitoyltransferase 1 activity is a risk factor for narcolepsy type 1‌Taku
Miyagawa1, Yosuke Shigematsu2, Mihoko Shimada1,3,4, Yoshiko Honda1, Katsushi Tokunaga3,4,
Makoto Honda1,5
1
2
3
4
5

OS-01-3‌Tokyo
Metropolitan Institute of Medical Science, Japan‌University of Fukui, Japan‌National Center for Global Health and Medicine, Japan‌The University of Tokyo, Japan‌Japan Somnology Center and Seiwa Hospital, Japan

Identification of a gene expression regulatory variant in autoimmune diseasessusceptibility locus CD58
‌
Yuki
Hitomi1, Kazuko Ueno1, Yoshihiro Aiba2, Nao Nishida3, Yosuke Kawai1, Minae Kawashima4,
Seik-Soon Khor1, Sanami Takada1, Chisato Iwabuchi1, Masao Nagasaki5, Katsushi Tokunaga1,
Minoru Nakamura2,6
1
2
3
4
5
6

OS-01-4‌National
Center for Global Health and Medicine, Japan‌Nagasaki Medical Center, Japan‌Tokyo Medical and Dental University, Japan‌Research Organization of Information and Systems, Japan‌Kyushu University, Japan‌Nagasaki University, Japan

Association of metabolism-related genes polymorphisms with metabolic syndrome
Components in The Balinese Population‌Safarina G. Malik, Herawati Sudoyo, Sukma Oktavianthi, Pradiptajati Kusuma
Genome Diversity and Diseases Division, Mochtar Riady Institute for Nanotechnology, Indonesia

OS-01-5

Association analysis between FLG loss of function mutations and allergen sensitization:
A birth cohort study‌EmikoNoguchi1, Hisato Suzuki1, Monami Hara1, Daisuke Hayashi1, Tatsuki Fukuie2,
Mayako Saito-Abe2, Limin Yang2, Kiwako Yamamoto-Hanada2, Masami Narita3, Yukihiro Ohya2
1
2
3

‌
Universityof Tsukuba, Japan‌Allergy Center, National Center for Child Health and Development, Japan‌Department of Pediatrics, School of Medicine, Kyorin University, Japan64

OS-01-6

Genetic association of LPL intronic variants with metabolic disorder among the Kuwaiti
population‌Suzanne Al-Bustan
Kuwait University, College of Science, Kuwait

OS-01-7

Prediction model with HLA-A*33:03 reveals number of days for liver carcinogenesis‌NaoNishida1, Jun Ohashi2, Yosuke Kawai3, Takayo Tsuchiura1, Miyuki Ishikawa3,
Katsushi Tokunaga3
12
3OS-01-8‌Tokyo
Medical and Dental University, Japan‌The University of Tokyo, Japan‌National Center for Global Health and Medicine, Japan

Highly prevalent pathogenic somatic or mosaic PDGFRB variants in intracranial
aneurysm‌
Shota
Sasagawa1, Yasuyuki Shima2,3, Nakao Ota2,4, Kenjiro Kosaki5, Hiroyuki Kamiguchi6,
Shigeo Okabe7,8, Tadafumi Kato9, Nobuhito Saito10, Hirofumi Nakatomi2,10,11, Hidewaki Nakagawa1
1
2
3
4
5
6
7

‌
Laboratory
for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan‌Biomedical Neural Dynamics Collaboration Laboratory, RIKEN Center for Brain Science, Wako, Saitama, Japan‌Neurodegenerative Disorders Collaboration Laboratory, RIKEN Center for Brain Science, Wako, Saitama, Japan‌Department of Neurosurgery, Sapporo Teishinkai Hospital, Sapporo, Hokkaido, Japan‌Center for Medical Genetics, Keio University Faculty of Medicine, Tokyo, Japan‌Laboratory for Neural Cell Dynamics, RIKEN Center for Brain Science, Wako, Saitama, Japan‌Department of Cellular Neurobiology, Graduate School of Medicine and Faculty of Medicine, The University ofTokyo, Tokyo, Japan
8 ‌Brain Medical Science Collaboration Division, RIKEN Center for Brain Science, Wako, Saitama, Japan9 ‌Department of Psychiatry & Behavioral Science, Juntendo University Graduate School of Medicine, Tokyo,Japan
10 ‌Department of Neurosurgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan11 ‌Department of Neurosurgery, Faculty of Medicine, Kyorin University, Mitaka, Tokyo, Japan

OS-01-9

Study for developing mechanisms of autoimmune encephalitis: contribution of
immunomodulatory genes in 43 patients‌Yukitoshi Takahashi1,2,3,4, Shigeko Nishimura1, Emiko Takao1, Risa Kasai1, Kaoru Enokida1
12
34

Oral Session 2‌National
Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Japan‌Department of Pediatrics, Gifu University School of Medicine, Japan‌School of Pharmaceutical Sciences, University of Shizuoka, Japan‌Department of Pediatrics, Gifu city hospital, Japan

Neurology

Date：Thursday, October 12, 2023 16:00 ～ 17:30 Room G（Meeting Room 2, 3F, Zenkoku Toshi Kaikan）
Chairs ：Tatsushi Toda（‌Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan）
Yuji Takahashi（‌Department of Neurology, Department of Genomic Medicine, National Center Hospital,
National Center of Neurology  and Psychiatry, Japan）
OS-02-1

Contribution of rare coding variations to microcephaly in patients withneurodevelopmental disorders‌JihoonYoon1, Seungbok Lee1,2, Se Song Jang2, Soojin Park2, Jaeso Cho1,2, Man Jin Kim1,3,
Soo Yeon Kim1,2, Woo Joong Kim2, Anna Cho4, Jin Sook Lee5, Murim Choi6, Byung Chan Lim2,
Jung Min Ko2, Ki Joong Kim2, Jong Hee Chae1,2
1
2
3
4
5
6

‌
Departmentof Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea‌Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea‌Department of Laboratory Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea‌Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea‌Department of Pediatrics, Seoul National University Hospital Child Cancer and Rare Disease Administration,
Seoul National University Children’s Hospital, Seoul, Republic of Korea‌Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea

65

OS-02-2

Integrated analysis of DNA methylation, gene expression, and genetic variant data in
CD4+/CD8+ T cells of narcolepsy‌Mihoko Shimada1, Yoshiko Honda2, Makoto Honda2, Katsushi Tokunaga1, Taku Miyagawa2
1
2

OS-02-3‌National
Center for Global Health and Medicine (NCGM), Japan‌Sleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute ofMedical Science, Japan

Hemizygous EIF1AX variants in male are associated with neurodevelopmental disorders‌Kazuyuki
Komatsu1, Atsushi Sugie2, Yohei Nitta2, M.Ummul Halilunnisa1, Petra J.G. Zwijnenburg3,
Melissa T Carter4, William B. Dobyns5, Emanuela Argilli6,7, Mitsuru Kubota8, Nobuyuki Shimozawa9,10
1 ‌Hamamatsu University School of Medicine, Japan
2 ‌Brain Research Institute, Niigata University, Japan
3 ‌Emma Children's Hospital Amsterdam UMC, University of Amsterdam, The Netherlands
4 ‌University of Ottawa, Canada
5 ‌University of Minnesota, USA
6 ‌University of California, USA
7 ‌Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, USA
8 ‌National Center for Child Health and Development, Japan
9 ‌Life Science Research Center, Gifu University, Japan10 ‌Gifu University Hospital, Japan

OS-02-4

Expansion of clinico-genetic spectrum of PRDX3 disease: A literature review with two
additional cases in East Asia
‌Jaeso Cho1, Jihoon G Yoon1, Seungbok Lee1, Sheehyun Kim1, Soo Yeon Kim1,2, Man Jin Kim1,3,
Jangsup Moon1,4, Jong Hee Chae1,21
2
34OS-02-5‌Seoul
National University Hospital, Department of Genomic Medicine, Korea‌Seoul National University College of Medicine, Department of Pediatrics, Korea‌Seoul National University Hospital, Department of Laboratory Medicine, Korea‌Seoul National University Hospital, Department of Neurology, Korea

SYNGAP1 encephalopathy: Natural history with developmental outcome in single
center cohort‌Woojoong Kim1, Hyejin Kim1, Jong-Hee Chae1,2
1
2

OS-02-6‌Departmentof Pediatrics, Division of Pediatric Neurology, Seoul National University Hospital, Korea‌Department of Genomic Medicine, Seoul National University Hospital, Korea

Detailed distribution analysis of epilepsy/neurodevelopmental disorder proteins Nav1.1
and Nav1.2‌Tetsushi Yamagata1, Toshimitsu Suzuki1, Yurina Hibi1, Ikuo Ogiwara2, Kazuhiro Yamakawa1
1
2

OS-02-7‌
NagoyaCity University Graduate School of Medical Sciences, Japan‌Nippon Medical School, JapanCGG repeat expansion in LRP12 in amyotrophic lateral sclerosis‌
Kodai
Kume1, Takashi Kurashige2, Keiko Muguruma3, Hiroyuki Morino4, Yui Tada1,
Mai Kikumoto1, Tatsuo Miyamoto1, Silvia Natsuko Akutsu1, Matsuda Yukiko1, Shinya Matsuura1,
Masahiro Nakamori5, Ayumi Nishiyama6, Rumiko Izumi6, Tetsuya Niihori6, Masashi Ogasawara7,
Nobuyuki Eura7, Tamaki Kato8, Mamoru Yokomura8, Yoshiaki Nakayama9, Hidefumi Ito9,
Masataka Nakamura3, Kayoko Saito8, Yuichi Riku10, Yasushi Iwasaki10, Hirofumi Maruyama5,
Yoko Aoki6, Ichizo Nishino7, Yuishin Izumi4, Masashi Aoki6, Hideshi Kawakami1
1
2
3
4
5
6
7

‌
Research
Institute for Radiation Biology and Medicine, Hiroshima University, Japan‌National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Japan‌Kansai Medical University, Japan‌Tokushima University, Japan‌Hiroshima University, Japan‌Tohoku University, Japan‌National Institute of Neuroscience, National Center of Neurology and Psychiatry, National Center Hospital,Japan
8 ‌Tokyo Women's Medical University, Japan
9 ‌Wakayama Medical University, Japan10 ‌Aichi Medical University, Japan66

OS-02-8

Circulating microRNAs as disease biomarkers of Fukuyama muscular dystrophy‌Mariko Taniguchi-Ikeda1, Daisuke Masuda3, Tatsutoshi Inuzuka3, Tatsushi Toda2
1
2
3

OS-02-9‌
FujitaHealth Universtiy Hospital, Japan‌Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan‌H.U. Group Holdings, Inc., Japan

Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fastchannel congenital myasthenic syndrome‌
Tomohiko
Nakata1, Xin-Ming Shen2, Seiji Mizuno3, Issei Imoto4, Duygu Selcen2, Andrew G. Engel2,
1
Kinji Ohno
1234

Oral Session 3‌NagoyaUniversity Graduate School of Medicine, Japan‌Mayo Clinic, USA‌Central Hospital, Aichi Developmental Disability Center, Japan‌Aichi Cancer Center Research Institute, Japan

Inherited Metabolic Diseases and Newborn Screening

Date：Friday, October 13, 2023 10:10 ～ 11:40 Room E（706, 7F, Toshi Center Hotel）
Chairs ：Kimitoshi Nakamura（‌Dept. Pediatrics, Kumamoto Univ., Japan）
Kayoko Saito（‌Institute of Medical Genetics, Tokyo Women's Medical University, Japan）
OS-03-1

Genetic background and long-term prognosis of cardiomyopathy in 313 ｍitochondrial
disease patients‌
AtsukoOkazaki1, Ayako Matsunaga2, Yukiko Yatsuka1, Yoshihito Kishita3, Ayumu Sugiura1,
Yohei Sugiyama1,4, Takuya Fushimi4, Masaru Shimura4, Keiko Ichimoto4, Makiko Tajika4,
Tomohiro Ebihara5, Tesuro Matsuhashi4, Tomoko Tsuruoka5, Tomoko Hirata6, Atsuhito Takeda7,
Akira Ohtake8,9, Kei Murayama1,4,10, Yasushi Okazaki1,61‌Diagnostics
and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University,
Graduate School of Medicine, Tokyo, Japan2 ‌Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan
3 ‌Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan4 ‌Department of Metabolism, Chiba Children's Hospital, Chiba, Japan5 ‌Department of Neonatology, Chiba Children's Hospital, Chiba, Japan
6 ‌Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa,Japan
7 ‌Department of Pediatrics, Hokkaido University, Hokkaido, Japan
8 ‌Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan
9 ‌Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan10 ‌Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan

OS-03-2

UPLC-MS/MS analysis of urinary oligosaccharides for the diagnosis of
mucopolysaccharidosis and glycoproteinosis‌
ParithWongkittichote, Se Hyun Cho, Rebecca Ahrens-Nicklas, Can Ficicioglu, Sarah Schmidt,
Xinying HongChildren's Hospital of Philadelphia, USA

OS-03-3

Efforts aimed at quick genetic diagnosis of suspected mitochondrial diseases:
Application of whole blood RNA sequencing‌
YukikoYatsuka1, Yoshihito Kishita1,2, Takuya Fushimi5,6, Atsuko Okazaki1, Ayumu Sugiura1,
Akira Ohtake3,4, Kei Murayama1,5,6, Yasushi Okazaki1,7
1
2
3
4
5
6
7

‌
Diagnostics
and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of
Medicine, Juntendo University, Japan‌Department of Life Science, Faculty of Science and Engineering, Kindai University, Japan‌Department of Pediatrics and Clinical Genomics, Saitama Medical University, Japan‌Center for Intractable Diseases, Saitama Medical University Hospital, Japan‌Center for Medical Genetics, Chiba Children's Hospital, Japan‌Department of Metabolism, Chiba Children's Hospital, Japan‌Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Japan67

OS-03-4

Distribution of variants and genotypes of CYP21A2 in congenital adrenal hyperplasia
over a period of 15 years in Iran‌
BaharehRabbani1, Nejat Mahdieh2, Ali Rabbani1, Mahin Hashemipour3, Zahra Razavi4,
Mahtab Ordouei5, Parastoo Rostami1, Aria Setoudeh1, Kobra Shiasi Arani6, Reza Tavakolizadeh7,
Reihaneh Mohsenipour1, Fatemaeh Sayarifard8, Naserali Mirhosseini6, Fahimeh Soheilipour9
1
2
3
4
5
6
7
8
9

OS-03-5‌Growthand Development Research Center, O Gene companay, Iran‌Rajaie Cardiovascular Research Center, Iran‌Isfahan University of Medical Science, Iran‌Hamedan University of Medical Science, Iran‌Shahid Sadoughi University of Medical Sciences, Iran‌Kashan University of Medical Sciences, Iran‌Tehran University of Medical Science, Iran‌Children's Medical Center, Iran‌Iran University of Medical Sciences, IranCalcitonin gene-related peptide (CGRP) receptor component (CRCP) deficiency inatypical hemolytic uremic syndrome‌Ching Wan Lam
Department of Pathology, School of Cinical Medicine, The University of Hong Kong, Hong Kong, China

OS-03-6

Streamlined determination of 3-O-methyldopa in dried blood spots: prospective
screening for AADC deficiency‌Yin-Hsiu Chien, Pin-Wen Chen, Wuh-Liang Hwu, Ni-CHung Lee
National Taiwan University Hospital, Taiwan

OS-03-7

Future perspectives of NBS: experience from cord blood transplantation for the infants
with athymic CHARGE syndrome‌Motoshi
Sonoda1, Masataka Ishimura1, Hirosuke Inoue1, Katsuhide Eguchi1, Masayuki Ochiai1,
Yasunari Sakai1, Takehiko Doi2, Kyoko Suzuki3, Takeshi Inoue4, Tomoyuki Mizukami5,
Hidetoshi Takada6, Shouichi Ohga1
1
2
3
4
5
6

OS-03-8‌KyushuUniversity, Japan‌Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Japan‌Department of Pediatrics, Juntendo University, Urayasu Hospital, Japan‌Division of Neonatology, Perinatal Center, Kumamoto City Hospital, Japan‌Department of Pediatrics, National Hospital Organization Kumamoto Medical Center, Japan‌Department of Child Health, Faculty of Medicine, University of Tsukuba, Japan

Acceptability of dried blood spot collection by caregivers of Filipino patients withmaple syrup urine disease and PKU‌RoxanneJanica Merencilla1, Leniza de Castro-Hamoy2, Ebner Bon Maceda1,2, Jeanne Ruth Basas1,
Rufus Thomas Adducul1
1
2

OS-03-9‌Instituteof Human Genetics, National Institute for Health - University of the Philippines, Manila, Philippines‌Department of Pediatrics- Philippine General Hospital, Philippines

Experiences and perceptions of Filipino mothers on the disclosure of positive maple
syrup urine disease (MSUD) Newborn Screening and confirmatory test results with
supplemental data from healthcare workers‌KevinaMariz Dajoyag, Catherine Lynn Silao, Mercy Laurino, Ma-Am Joy Tumulak,
Mary Anne Chiong, Manuel Victor Sapitula
University of the Philippines, Manila, Philippines

68Oral Session 4

Rare Diseases 1

Date：Friday, October 13, 2023 10:10 ～ 11:40 Room G（Meeting Room 2, 3F, Zenkoku Toshi Kaikan）
Chairs ：Maki Fukami（‌National Research Institute for Child Health and Development, Japan）
Shoji Tsuji（‌International University of Health and Welfare, Japan）
OS-04-1

The comprehensive genetic analyses of cystic kidney disease in Japan‌Naoya Morisada1, Ming Juan Ye2, Yu Tanaka2, Eri Okada3, Kazumoto Iijima2, Kandai Nozu2
1
2
3

OS-04-2‌
Hyogo
Prefectural Kobe Children's Hospital, Japan‌Department of Pediatrics, Kobe University Graduate School of Medicine, Japan‌Department of Nephrology, Faculty of Medicine, University of Tsukuba, Japan

Risk of assisted reproductive technology and maternal childbearing age for thedevelopment of imprinting disorders‌
Kaori
Hara1, Keiko Matsubara1, Akie Nakamura1,2, Shinichiro Sano1,3, Takanobu Inoue1,
Sayaka Kawashima1, Tomoko Fuke1, Kazuki Yamazawa1,4, Maki Fukami1, Tsutomu Ogata1,5,6,
Masayo Kagami1
1
2
3
4
5
6

OS-04-3‌National
Research Institute for Child Health and Development, Japan‌Department of Pediatrics, Hokkaido University School of Medicine, Japan‌Department of Endcrinology and Metabolism, Shizuoka Children’s Hospital, Japan‌Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Japan‌Department of Biochemistry, Hamamatsu University School of Medicine, Japan‌Department of Pediatrics, Hamamatsu Medical Center, Japan

Impaired hematopoiesis in mice harboring a disease-associated MECOM (EVI1)
mutation‌
Koki
Nagai1, Tetsuya Niihori1, Akihiko Muto2, Yoshikazu Hayashi3, Taiki Abe1, Kazuhiko Igarashi2,
Yoko Aoki1
1
2
3

OS-04-4‌Departmentof Medical Genetics, Tohoku University Graduate School of Medicine, Japan‌Department of Biochemistry, Tohoku University Graduate School of Medicine, Japan‌Division of Functional Structure, Department of Morphological Biology, Fukuoka Dental College, JapanPMEPA1 mutation found in 3 Japanese families with MFS/LDS like features‌
HirokoMorisaki1,2,3, Itaru Yamanaka3, Takako Ohata4, Tomoki Kosho5,6, Keiko Wakui5,6,
Mitsuo Masuno7, Tetsuro Watabe8, Yukihide Watanabe9, Takayuki Morisaki2,3
1
2
3
4
5
6
7
8
9

OS-04-5‌
Sakakibara
Heart Institute, Japan‌IMSUT Hospital, Inst Med Sci, Univ Tokyo, Japan‌Natl Cerebr Cardiovasc Ctr, Japan‌Okinawa Pref Hosp, Japan‌Dept Med Genet, Shinshu Univ Med Sch, Japan‌Ctr Med Genet, Shishu Univ Hosp, Japan‌Kawasaki Med Sch, Japan‌Dept Biochem, Tokyo Med Dent Univ, Japan‌Facult Med & Grad Sch Coprehens Hum Sci, Univ Tsukuba, Japan

Inpatient morbidity, mortality, and healthcare utilisation of hospitalised patients with
Prader-Willi syndrome‌Jirat Chenbhanich1, Patompong Ungprasert2, Paul Kroner3
1
2
3

‌
Departmentof Genetics and Genomic Sceinces, Case Western Reserve University, Cleveland, Ohio, USA‌Department of Rheumatic and Immunologic Diseases, Cleveland Clinic, Cleveland, Ohio, USA‌Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Jacksonville, FL, USA69

OS-04-6

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal
radial glia
‌Yuji
Nakamura1, Issei Shimada1, Reza Maroofian2, Akihiko Miyauchi3, Eriko Koshimizu4,
Satoko Miyatake4, Yuko Arioka5, Mizuki Honda6, Takayoshi Higashi7, Fuyuki Miya8,
Kazuhiro Haginoya9, Naomichi Matsumoto4, Norio Ozaki5, Yasuyuki Ohkawa10, Shinya Oki6,
Tatsuhiko Tsunoda11, Yoshitaka Taketomi7, Makoto Murakami7, Yoichi Kato1, Shinji Saitoh1
1
2
3
4
5
6
7

‌
NagoyaCity University Graduate School of Medical Sciences, Japan‌UCL Queen Square Institute of Neurology, University College London, UK‌Jichi Medical University, Japan‌Yokohama City University Graduate School of Medicine, Japan‌Nagoya University Graduate School of Medicine, Japan‌Kyoto University Graduate School of Medicine, Japan‌Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo,Japan
8 ‌Keio University School of Medicine, Japan
9 ‌Miyagi Children's Hospital, Japan10 ‌Medical Institute of Bioregulation, Kyushu University, Japan11 ‌School of Science, The University of Tokyo, Japan

OS-04-7Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting
mirror phenotypes of Feingold syndrome‌YosukeNishio1,2,3, Kohji Kato1,2,3, Frederic Tran Mau-Them4,5, Hiroshi Futagawa6, Chloé Quélin7,
Saori Masuda8, Antonio Vitobello4,5, Shiomi Otsuji1, Hossam H. Shawki9, Hisashi Oishi9,
Christel Thauvin-Robinet4,5,10, Toshiki Takenouchi11, Kenjiro Kosaki12, Yoshiyuki Takahashi2,
Shinji Saitoh1
1
2
3
4

‌
Departmentof Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan‌Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan‌Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan‌Unité Fonctionnelle d’Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon
Bourgogne, France
5 ‌INSERM UMR GAD, Université de Bourgogne, France
6 ‌Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Japan
7 ‌Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, France
8 ‌Department of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Japan9 ‌Department of Comparative and Experimental Medicine, Nagoya City University Graduate School of Medical
Sciences and Medical School, Japan10 ‌Centre de Référence Maladies Rares “Anomalies du développement et syndromes malformatifs”, Centre deGénétique, FHU TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, France
11 ‌Department of Pediatrics, Keio University School of Medicine, Japan12 ‌Center for Medical Genetics, Keio University School of Medicine, Japan

OS-04-8

Phenotypic heterogeneities in five patients with ZMYND11-related syndromic
intellectual disability‌
Qiaowei
Liang1, Yuri Uchiyama1,2, Naomi Tsuchida1,2, Yuta Inoue1, Hiromi Aoi1, Rie Seyama1,
Isabel Furquim3, Chong Ae Kim3, Hirotaka Motoi4, Ikumi Moriyama5, Mariko Taniguchi-Ikeda5,
Chikahiko Numakura6, Eriko Koshimizu1, Atsushi Fujita1, Kazuharu Misawa1, Satoko Miyatake1,7,Takeshi Mizuguchi1, Naomichi Matsumoto1
1
2
3
4
5
6
7

OS-04-9‌Departmentof Human Genetics, Yokohama City University Graduate School of Medicine, Japan‌Department of Rare Disease Genomics, Yokohama City University Hospital, Japan‌Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil‌Department of Pediatrics, Yokohama City University Medical Center, Japan‌Department of Clinical Genetics, Fujita Health University Hospital, Japan‌Department of Clinical Genomics, Saitama Medical University, Japan‌Department of Clinical Genetics, Yokohama City University Hospital, Japan

Molecular pathogenesis underlying genetic diseases with abnormalities of DNA
methylation‌Motoko Unoki1, Shuhei Uemura2, Hiroyuki Sasaki2
1
2

‌
The
University of Tokyo, Japan‌Kyushu University, Japan70

Oral Session 5

Rare Diseases 2

Date：Friday, October 13, 2023 16:20 ～ 18:10 Room G（Meeting Room 2, 3F, Zenkoku Toshi Kaikan）
Chairs ：Mariko Eguchi（‌Department of Pediatrics, Ehime University Graduate School of Medicine, Japan）
Yoichi Matsubara（‌National Center for Child Health and Development, Japan）
OS-05-1

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental
disorders‌
MamikoYamada1, Yohei Nitta2, Tomoko Uehara1, Hisato Suzuki1, Toshiki Takenouchi3,
Masaru Tamura4, Shinya Ayabe5, Atsushi Yoshiki5, Yumiko Saga6, Nobuhiko Okamoto7,
Atsushi Sugie2, Kenjiro Kosaki1
1
2
3
4
5
6
7

OS-05-2‌
Keio
University, School of Medicine, Center for Medical Genetics, Japan‌Brain Research Institute, Niigata University, Japan‌Department of Pediatrics, Keio University School of Medicine, Japan‌Mouse Phenotype Analysis Division, RIKEN BioResource Research Center, Japan‌Experimental Animal Division, RIKEN BioResource Research Center, Japan‌Mammalian Development Laboratory, Department of Gene Function and Phenomics, National Institute of
Genetics, Japan‌Department of Medical Genetics, Osaka Women's and Children's Hospital, Japan

Genome-wide association and HLA fine-mapping analysis of Hunner-type interstitial
cystitis identify risk HLA variants‌
Kyuto
Sonehara1,2,3, Yoshiyuki Akiyama1, Daichi Maeda4, Hiroto Katoh1, Tatsuhiko Naito1,2,3,
Kenichi Yamamoto2, Biobank Japan Project6, Takayuki Morisaki1, Shumpei Ishikawa1,
Tetsuo Ushiku1, Haruki Kume1, Yukio Homma5, Yukinori Okada1,2,3
1
2
3
4
5
6

OS-05-3‌The
University of Tokyo, Japan‌Osaka University, Japan‌RIKEN Center for Integrative Medical Sciences, Japan‌Kanazawa University, Japan‌Kyorin University, Japan‌Biobank Japan Project, Japan

Genotype and phenotype landscape of 283 Japanese patients with tuberous sclerosis
complex‌Yo Niida1, Sumihito Togi2, Hiroki Ura2
1
2

OS-05-4‌Kanazawa
Medical University Hospital, Japan‌Medical Research Institute, Kanazawa Medical University, Japan

Diagnostic yield and utility of exome sequencing on 18,994 patients with suspected
rare genetic disorders‌Go Hun Seo, Seong-In Hyun, Kisang Kwon, Hane Lee
3billion, Korea

OS-05-5

Rapid generation of transgenic mouse mimicking variant of uncertain significance (VUS)
clarifies its pathogenicity‌Shin Hayashi1, Yasuyo Suzuki1, Daisuke Fukushi1, Kenichiro Yamada1, Hiroaki Miyahara2
1
2OS-05-6‌Institutefor Developmental Research, Aichi Developmental Disability Center, Japan‌Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Japan

A disease model using iPSs from patients with Kosaki overgrowth syndrome reveals
abnormal migration of myofibroblasts‌Hironobu Okuno1, Miki Sato2, Naoko Yamamoto2, Kenjiro Kosaki2, Hideyuki Okano2
1
2

‌
Tokyo
Medical University, Japan‌Keio University School of Medicine, Japan71

OS-05-7

Impact of clonal hematopoiesis in chronic thromboembolic pulmonary disease:involvement of neutrophil extracellular trap‌
Mizuki
Momoi1, Yoshinori Katsumata1, Hiroyoshi Kunimoto2, Yoshiki Shinya1, Takahiro Hiraide1,
Fuyuki Miya1, Kenjiro Kosaki1, Hideaki Nakajima2, Masaharu Kataoka1,31
2
3OS-05-8‌
Keio
University School of Medicine, Japan‌Yokohama City University Graduate School of Medicine, Japan‌University of Occupational and Environmental Health, Japan

Exome sequencing identifies novel genes and variants in patients with Hirschsprungdisease.‌ Gunadi1, Alvin Santoso Kalim1, Kristy Iskandar1, Marcellus Marcellus1, Dyah Ayu Puspitarani1,
Rizki Diposarosa2, Akhmad Makhmudi1, Galuh Dyah Nur Astuti3
1
2
3

OS-05-9‌Facultyof Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Indonesia‌Faculty of Medicine, Universitas Padjadjaran, Indonesia‌Radboud University Medical Center, Nijmegen, The Netherlands

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in acohort of Indonesian patients‌Kristy Iskandar, . Sunartini, Gabriele Ivana, . Gunadi
Universitas Gadjah Mada, Indonesia

OS-05-10

Diverse clinical manifestations due to pathogenic DHX37 variants in 46,XY disordersof sex differentiation‌
Yuko
Katoh-Fukui1, Daisuke Saito1, Hiroko Narumi2, Atsushi Hattori1, Maki Igarashi1,
Erika Uehara1,3, Hirohito Shima4, Junko Kanno4, Yukihiro Hasegawa2, Reiko Horikawa3,
Maki Fukami1
12
34OS-05-11‌National
Research Institute for Child Health and Development, Japan‌Tokyo Metropolitan Children’s Medical Center, Japan‌National Center for Child Health and Development, Japan‌Tohoku University School of Medicine, Japan

Care4Rare Canada: Network science to solve the unsolved rare genetic diseases‌Kym Boycott1, Taila Hartley1, Care4Rare Canada Consortium1, Francois Bernier2
12

Oral Session 6‌Universityof Ottawa, Canada‌University of Calgary, Canada

Databases / Data sharing / Biobank

Date：Saturday, October 14, 2023 13:40 ～ 14:40 Room D（701, 7F, Toshi Center Hotel）
Chairs ：Toshiaki Katayama（‌Database Center for Life Science, Japan）
Mayumi Kamada（‌Graduate School of Medicine, Kyoto University, Japan）
OS-06-1

Establishment of a nationwide cardiovascular genomic registry for genomic medicine‌
Yohei
Miyashita1,2, Koshiro Kanaoka1, Yuki Kuramoto2, Yasuki Ishihara1, Yuji Sakahashi1,
Yoshihiro Asano1,2
1
2

OS-06-2‌National
Cerebral and Cardiovascular Center, Japan‌Osaka University Graduate School of Medicine, Japan

CaseSharing: A case information management system in PubCaseFinder suitable forsharing rare disease cases‌
Toyofumi
Fujiwara1, Eisuke Dohi3, Jae-Moon Shin1, Yuka Tateisi4, Yasunori Yamamoto1,
Atsuko Yamaguchi5, Atsuo Kikuchi2
1
2
3
4
5

‌
Database
Center for Life Science, Japan‌Department of Pediatrics, Tohoku University Graduate School of Medicine, Japan‌National Center of Neurology and Psychiatry, Japan‌Japan Science and Technology Agency Department of NBDC Program, Japan‌Tokyo City University, Japan72

OS-06-3

Real-word data of gynecological malignancies in Japan -Comprehensive analysis of
C-CAT database‌Michihiro
Tanikawa, Masachika Ikegami, Misako Kusakabe, Tatsuya Sato, Aya Osonoi,
Fuminori Yoshino, Reiko Nakamura, Nao Kino, Tatsuro Yamaguchi, Toshiharu Yasugi
Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Japan

OS-06-4

Investigating batch effects in whole genome sequencing: A study of paired samples
from two sequencing projects‌Uladzislau Korzun1,2,3, Hiroyuki Mishima1,3,4, Koh-ichiro Yoshiura1,3,4
1
2
34

OS-06-5‌Nagasaki
University, Japan‌Medical Science Course, Department of Disaster and Radiation Medical Sciences, Graduate School of Biomedical
Science, Nagasaki University, Japan‌Department of Human Genetics, Genomic Function Analysis Unit, Atomic Bomb Disease Institute, Nagasaki
University, Japan‌Leading Medical Research Core Unit, Graduate School of Biomedical Science, Nagasaki University, Japan

GestaltMatcher supports lumping and splitting decision-making by facial phenotype
descriptors‌
Tzung-Chien
Hsieh1, Hannah Klinkhammer1,2, Hellen Lesmann1,3, Shahida Moosa4,
Alexander Hustinx1, Behnam Javanmardi1, Jing-Mei Li1, Martin M.C. Chui5, Christopher C.Y. Mak5,
Luisa Averdunk6, Felix Distelmaier6, Brian H.Y. Chung5, Peter Krawitz1
1
2
3
4
5
6

OS-06-6‌Institutefor Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany‌Instutute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn, Germany‌Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany‌Division of Molecular Biology and Human Genetics, Stellenbosch University, Stellenbosch, South Africa‌Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine,
University of Hong Kong, Hong Kong
‌Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital,
Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders‌HellenLesmann1,2, Gholson Lyon3, Pilar Caro4, Ibrahim Abdelrazek5, Shahida Moosa6,
Jean Tori Pantel7, Jing-Mei Li2, Merle ten Hagen2, Tom Kamphans8, Wolfgang Meiswinkel8,
Benjamin D. Solomon9, Rebekah Waikel9, Ebtesam Abdalla5, Markus M. Nöthen1, Peter Krawitz2,
Tzung-Chien Hsieh2
1
2
3
4
5
6
7
8
9

Oral Session 7‌Instituteof Human Genetics, University Hospital of Bonn, Bonn, Germany‌Institute for Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany‌Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities,
Staten Island, New York, United States of America‌Institute of Human Genetics, Heidelberg University, Heidelberg, Germany‌Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt‌Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg
Hospital, Stellenbosch, South Africa‌Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, Germany‌GeneTalk, Bonn, Germany‌Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA

Prenatal Genetics

Date：Saturday, October 14, 2023 8:00 ～ 9:30 Room E（706, 7F, Toshi Center Hotel）
Chairs ：Osamu Samura（‌Department of Obstetrics and Gynecology,  The Jikei University School of Medicine, Japan）
Aiko Sasaki（‌National Center for Child Health and Development, Japan）
OS-07-1

The Role of prenatal genetic counselling in parental reproductive decision in raredisease‌Rifhan Azwani Mazlan1, Meow Keong Thong1,2, Sok Kun Tae2
12

‌MedicalGenetics Unit, University Malaya Medical Centre, Malaysia‌Genetic and Metabolism Unit, Department of Pediatric, Faculty of Medicine, University Malaya, Malaysia

73

OS-07-2

Low-frequency maternal novel MYH7 mosaicism mutation in recurrent fetal-onset
severe left ventricular noncompaction‌
Hiroshi
Kawamura1, Masamichi Ikawa2, Keiichi Hirono3, Junya Kimura6, Takashi Okuno4,
Masao Kawatani4, Kunihiro Inai5, Yoshio Yoshida1
1
2
3
4
5
6

OS-07-3‌Departmentof Obstetrics and Gynecology, University of Fukui, Japan‌Department of Medical Genetics, University of Fukui Hospital, Japan‌Department of Pediatrics, University of Toyama, Japan‌Department of Pediatrics, University of Fukui, Japan‌Department of Molecular Pathology, University of Fukui, Japan‌Division of Diagnostic Pathology / Surgical Pathology, University of Fukui Hospital, Japan

Preimplantation and prenatal genetic diagnosis for mitochondrial DNA disorders:efforts for reassurance‌ Shijiki1, Chikahiko Numakura1,3, Megumi Tsuruoka1, Hazuki Sato1,2, Nozomi Uemura1,2,
Eri
Sayaka Ajihara1,3, Ikuma Musha1,3, Yusuke Narizuka1,4, Yukiko Yatsuka5, Yosuke Mizuno1,4,
Kei Murayama5,6,7, Yasushi Okazaki5, Naoki Hayashi8, Akira Namba1,2, Yoshimasa Kamei2,
Akira Ohtake1,3
1
2
3
4
5
6
7
8

OS-07-4‌Departmentof Clinical Genomics, Saitama Medical University, Japan‌Department of Obstetrics and Gynecology, Saitama Medical University, Japan‌Department of Pediatrics, Saitama Medical University, Japan‌Division of Morphological Science, Biomedical Research Center, Saitama Medical University, Japan‌Intractable Disease Research Center, Juntendo University, Japan‌Department of Metabolism, Chiba Children’s Hospital, Japan‌Clinical Genetics Center, Chiba Children’s Hospital, Japan‌Women's Clinic Fujimino, Japan

Japanese multicenter study on fetal CNVs in detected in maternal cell-free DNA incases of miscarriage and stillbirth‌
Yuka
Yamashita1, Nahoko Shirato1, Kiyotake Ichizuka3, Reina Komatsu2, Seiji Wada4,
Haruhiko Sagou4, Yuki Ito5, Osamu Samura5, Nobuhiro Suzumori6, Hideaki Sawai7, Yuko Tamaki9,
Yukiko Katagiri9, Yoshinori Maeda8, Hiroko Morisaki13, Akira Namba10, Yoshimasa Kamei10,
Yuri Hasegawa11, Kiyonori Miura11, Setsuko Nakayama12, Akihiko Sekizawa1
1 ‌Showa University School of Medicine Department of Obstetrics and Gynecology, Japan
2 ‌Showa University Koto Toyosu Hospital Department of Obstetrics and Gynecology, Japan
3 ‌Showa University Northern Yokohama Hospital Department of Obstetrics and Gynecology, Japan
4 ‌National Center for Child Health and Development Department of Obstetrics and Gynecology, Japan5 ‌The Jikei University School of Medicine Department of Obstetrics and Gynecology, Japan
6 ‌Nagoya City University Hospital Department of Obstetrics and Gynecology, Japan
7 ‌Hyogo Medical University Department of Obstetrics and Gynecology, Japan
8 ‌Sakakibara Heart Institute Department of Obstetrics and Gynecology, Japan
9 ‌Toho University Omori Medical Center Department of Obstetrics and Gynecology, Japan10 ‌Saitama Medical University Hospital Department of Obstetrics and Gynecology, Japan11 ‌Nagasaki University Department of Obstetrics and Gynecology, Japan12 ‌Aiiku Hosipital Department of Obstetrics and Gynecology, Japan13 ‌Sakakibara Heart Institute Department of Clinical Genetics, Japan

OS-07-5Comparison of full length aneuploidy and segmental aneuploidy in PGT-A mosaic
embryos at a private clinic‌AtsushiTanaka1, Shohei Komemoto1, Youichi Takemoto1, Motoi Nagayoshi1, Yuya Makino1,2,
Daisuke Nakajima1,3, Seiji Watanabe4
12
34

OS-07-6‌SaintMother Clinic, Japan‌Juntendo University School of Medicine, Japan‌Occupational and Environmental Health University School of Medicine, Japan‌Hirosaki University Graduate School of Medicine, Japan

Accuracy in predicting chromosomal aneuploidy by professional precise ultrasoundexamination at 1st trimester‌Norio Shinozuka, Ayaka Kawabe, Yuto Yamamoto, Michiharu Seto
Seto Hospital, Japan74

OS-07-7

What is needed to discuss regarding termination of pregnancy: lessons we learned at
a prenatal diagnostic center‌Chieko Tamura, Chikoto Ihara, Mio Furusawa, Kenji Yamada, Yasushi Yamada
FMC Tokyo Clinic, Japan

OS-07-8

Establishment of genetic tool for reproductive risk analysis of reciprocal translocation‌Makoto Inaki1, Tsuyoshi Baba2, Hiroki Kurahashi3, Toshiaki Endo1,2,4
1
2
34

OS-07-9‌SapporoRecurrent Miscarriage and Implantation Failure Consortium, Japan‌Department of Obstetrics and Gynecology, Sapporo Medical University, Japan‌Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan‌Ena Asabu Art Clinic, Japan

A study on the selection of examination facilities after the start of the NIPT certification
system‌Nahoko Shirato1, Akihiko Sekizawa1, Tatsuko Hirose1,2, Shin Ikebukuro1, Takeshi Nakamura1,
Keiko Miyagami1, Takahiro Yamada3
1
2
3

Oral Session 8

‌
Showa
University School of Medicine, Japan‌Showa University Graduate School of Health Sciences, Japan‌Division of Clinical Genetics, Hokkaido University Hospital, Japan

Technological Advanced, Wet and Dry

Date：Saturday, October 14, 2023 13:40 ～ 15:10 Room E（706, 7F, Toshi Center Hotel）
Chairs ：Masayo Kagami（‌Department of Molecular Endocrinology,  National Research Institute for Child Health andDevelopment, Japan）
Kenichiro Hata（‌Dept. Hum. Mol. Genet., Gunma Univ., Japan / National Center for Child Health andDevelopment, Japan）
OS-08-1

Region-specific gene isoforms in the human brain using long-read sequencing andtheir correlation with DNA methylation‌
MihokoShimada1, Yosuke Omae1, Akiyoshi Kakita2, Ramil Gabdulkhaev2, Taku Miyagawa3,
Makoto Honda3, Akihiro Fujimoto4, Katsushi Tokunaga1
12
34

OS-08-2‌National
Center for Global Health and Medicine (NCGM), Japan‌Department of Pathology, Brain Research Institute, Niigata University, Japan‌Sleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute ofMedical Science, Japan‌Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Japan

Functional and dynamic profiling of transcript isoforms reveals roles of isoform
switching in interferon response‌Mahoko Ueda1, Jun Inamo2,3, Fuyuki Miya4, Kensuke Yamaguchi5,6, Yuta Kochi1,6
1
2
3
4
5
6

OS-08-3‌
MedicalResearch Institute, Tokyo Medical and Dental University, Japan‌Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, USA‌Department of Biomedical Informatics, Center for Health Artificial Intelligence, University of Colorado School of
Medicine, Aurora, CO, USA‌Center for Medical Genetics, Keio University School of Medicine, Japan‌Biomedical Engineering Research Innovation Center, Institute of Biomaterials and Bioengineering, Tokyo
Medical and Dental University, Tokyo, Japan‌Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa,Japan

Identification of DNA methylation sites by a trans-ethnic epigenome-wide metaanalysis for circulating adiponectin levels‌Masahiro Nakatochi1, Sahoko Ichihara2, Ken Yamamoto3, Tatsuaki Matsubara4, Mitsuhiro Yokota5
1
2
3
4
5

‌
NagoyaUniversity, Japan‌Department of Environmental and Preventive Medicine, Jichi Medical University School of Medicine,
Shimotsuke, Japan‌Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, Japan‌Faculty of Human Sciences, Aichi Mizuho College, Nagoya, Japan‌Kurume University School of Medicine, Kurume, Japan75

OS-08-4

Japanese reference genome elucidated chromosomal rearrangements with structuralvariations at long-read sequencing‌Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa
Kanagawa Children's Medical Center, Japan

OS-08-5

Demonstrating the variability of variant classification through external quality
assessment‌
ZandraDeans, Dave Cregeen, Jenni Fairley, Farrah Khawaja, Mark Sales, Melody Tabiner,
Rebecca Treacy, Rosalind Hastings
GenQA, UK

OS-08-6

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing‌
Ryo
Kurosawa1, Kei Iida2, Masahiko Ajiro3, Tomonari Awaya1, Mamiko Yamada4, Kenjiro Kosaki4,
Masatoshi Hagiwara1
12
3
4

OS-08-7‌
Kyoto
University, Japan‌Kindai University, Japan‌National Cancer Center Research Institute, Japan‌Center for Medical Genetics, Keio University School of Medicine, Japan

Quantification of escape from X chromosome inactivation with the million cell-scale
single-cell RNA-seq datasets‌Yoshihiko
Tomofuji, Ryuya Edahiro, Yuya Shirai, Kyuto Sonehara, Atsushi Kumanogoh,
Yukinori Okada
Osaka University, Japan

OS-08-8

From Uncertain to Likely: The impact of an update on variant classification‌
Norafiza
Mohd Yasin, Faidatul Syazlin Abdul Hamid, Nur Aishah Aziz, Ezzanie Suffya Zulkefli,
Syahzuwan Hassan, Azian Naila Md Nor, Ermi Neiza Mohd Sahid, Yuslina Mat Yusoff, Ezalia Esa
Hematopathologist, Haematology Unit, Cancer Research Centre, Institute for Medical Research, Malaysia

OS-08-9

Improving CNV detection performance in microarray data using a machine learningbased approach: Validation with 29,508 Korean population‌Sam Martin, Hyuk-Jung Kwon
EDGC, Korea

Oral Session 9

Cancer Genomics, Somatic

Date：Saturday, October 14, 2023 8:00 ～ 9:30 Room F（Meeting Room 1, 3F, Zenkoku Toshi Kaikan）
Chairs ：Akihiro Fujimoto（‌Department of Human Genetics, Graduate School of Medicine, The University of Tokyo,
Japan）
Hidenobu Soejima（‌Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences,
Faculty of Medicine, Saga University, Japan）
OS-09-1

Molecular characterization of URST1 as a novel prognostic biomarker and therapeutictarget for lung cancer‌Atsushi Takano1, Yohei Miyagi3, Yataro Daigo1,2
1
2
3

OS-09-2‌
Shiga
University of Medical Science, Japan‌Institute of Medical Science, The University of Tokyo, Japan‌Kanagawa Cancer Center, Japan

Pan-cancer analysis of HRD score using whole-genome sequencing for nonpathogenic variant cases‌
Akane
Naruoka, Masakuni Serizawa, Keiichi Ohshima, Yasue Horiuchi, Takeshi Nagashima,
Keiichi hatakeyama, Yuji Shimoda, Sumiko Ohnami, Shumpei Ohnami, Kenichi Urakami,
Yasuto Akiyama, Ken Yamaguchi
Shizuoka Cancer Center Research Institute, Japan

76

OS-09-3

Oncogenic EGFR signal induces histone deacetylation at a putative common enhancer
region near CXCL9/10/11 gene loci‌Hidetoshi Sumimoto1, Atsushi Takano1,2, Koji Teramoto1, Yataro Daigo1,2
12

OS-09-4‌
Shiga
University of Medical Science, Japan‌Center for Antibody and Vaccine Therapy, Research Hospital, Institute of Medical Science, The University ofTokyo, Japan

Genomic nomenclature for the accurate description of pathogenic variation‌Rosalind Hastings1, Melody Tabiner2, Mark Sales1, Fiona Morgan1, Zandra Deans1
12

OS-09-5‌
NHS
Lothian, UK‌Oxford University Hospitals NHS Foundation Trust, UK

Expression of HJURP regulates oral cancer cell proliferation through regulation ofdownstream genes‌Bayarbat Tsevegjav1, Atsushi Takano1,2, Yoshihiro Yoshitake3, Masanori Shinohara3, Yataro Daigo1,2
1
2
3

OS-09-6‌
Shiga
University of Medical Science, Japan‌The University of Tokyo, Japan‌Kumamoto University, Japan

Molecular characterization of URST7 as a new prognostic biomarker and therapeutictarget for breast cancer subtypes‌Regina Mbugua1, Atsushi Takano1,2, Bayarbat Tsevegjav1, Yohei Miyagi3, Yataro Daigo1,2
1
2
3

OS-09-7‌
Shiga
University of Medical Science, Japan‌The University of Tokyo, Japan‌Kanagawa Cancer Center, JapanThe regulation of transforming growth factor-beta by hypoxia in tumor-associatedmacrophages‌Koji Teramoto, Hidetoshi Sumimoto, Yataro Daigo
Shiga University of Medical Science, Japan

OS-09-8

Genome-wide analysis shows liver cancers lacking defined etiologies are enriched for
tobacco exposure related mutations‌
Todd
Johnson1,2, Shota Sasagawa1,2, Kazuhiro Maejima1,2, Masaki Ueno3, Kazuaki Chayama4,
Atsushi Ono4, Hisashi Kosaka5, Masashi Kaibori5, Hidewaki Nakagawa1,2
1
2
3
4
5

OS-09-9‌
RIKEN
IMS, Japan‌Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan‌Second Department of Surgery, Wakayama Medical University, Wakayama, Japan‌Department of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Sciences,
Hiroshima University, Hiroshima, Japan‌Department of Surgery, Kansai Medical University, Osaka, JapanThe epigenetic and cancer precision medicine: Plasticity of noncoding RNA innasopharyngeal carcinoma in Indonesia‌Sofia Harjana1, Dicka Setyosari1, Tirta Wardana2, Cita Herawati3
1
2
3

‌
Facultyof Medicine Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia‌Faculty of Medicine UNSOED, Purwokerto, Indonesia‌Faculty of Medicine Universitas Gunadarma, Jakarta, Indonesia

77Oral Session 10

Cancer Genomics, Germline

Date：Saturday, October 14, 2023 13:40 ～ 15:10 Room F（Meeting Room 1, 3F, Zenkoku Toshi Kaikan）
Chairs ：Akira Hirasawa（‌Department of Clinical Genomic Medicine,  Okayama University, Japan）
Arisa Ueki（‌Cancer Institute Hospital, Clinical Genetic Oncology, Japan）
OS-10-1Case-control analysis for germline PTEN variants indicates their associations withendometrial and breast cancer risk
‌Yuki Kanazashi1,3, Yusuke Iwasaki4, Yoichiro Kamatani5, Koichi Matsuda6, Yoshinori Murakami7,
Hidewaki Nakagawa2, Yukihide Momozawa4
1
2
3
4
5
6
7

OS-10-2‌
RIKEN
Center for Integrative Medical Sciences, Japan‌Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan‌Department of Human Genetics, Yokohama City University, Yokohama, Japan‌Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan‌Laboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate
School of Frontier Sciences, The University of Tokyo, Tokyo, Japan‌Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences,
Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan‌Division of Molecular Pathology, Department of Cancer Biology, Institute of Medical Science, The University ofTokyo, Tokyo, Japan

Mismatch repair deficient endometrial cancers and Lynch syndrome in a large cohortstudy‌MayukoGoda, Shingo Miyamoto, Saki Aota, Asumi Misawa, Hirofumi Inaba, Sho Mizuno,
Akira Kawata, Yurina Suzuki, Koji Horie, Kiwamu Akagi
Saitama Prefectual Cancer Center, Japan

OS-10-3

Utility of multi-gene panel testing for patients with breast / ovarian cancer‌
Yuko
Minoura1, Keika Kaneko1, Hiromi Arakawa1, Eri Habano1, Asami Kuga1, Naomi Hayashi1,
Akito Dobashi2, Takahiro Kogawa1, Arisa Ueki1
1
2

OS-10-4‌
The
Cancer Institute Hospital, Japanese Foundation for Cancer Research, Japan‌The Cancer Institute, Japanese Foundation for Cancer Research, Japan

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast andovarian cancer predisposition‌KazukiYamazawa1, Kokichi Sugano2,3, Kohji Tanakaya4, Satomi Inoue1, Haruka Murakami1,
Moeko Nakashima1, Masataka Adachi11, Shinya Oki11, Takeshi Makabe11, Hiroshi Yamashita11,
Arisa Ueki5, Tatsuo Matsunaga1, Takayuki Kinoshita12, Masami Arai6, Seigo Nakamura7,
Hiroaki Miyata8, Masachika Ikegami9,10, Hiroyuki Mano9, Shinji Kohsaka9, Akira Matsui12
1
2
3
4
5

‌
National
Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Japan‌Department of Genetic Medicine, Sasaki Foundation, Kyoundo Hospital, Japan‌Department of Genetic Medicine and Services, National Cancer Center Hospital, Japan‌Department of Surgery, National Hospital Organization Iwakuni Clinical Center, Japan‌Division of Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research,Japan
6 ‌Department of Clinical Genetics, Juntendo University, Graduate School of Medicine, Japan
7 ‌Division of Breast Surgical Oncology, Department of Surgery, Showa University School of Medicine, Japan
8 ‌Department of Health Policy and Management, Keio University School of Medicine, Japan9 ‌Division of Cellular Signaling, National Cancer Center Research Institute, Japan10 ‌Department of Musculoskeletal Oncology, Tokyo Metropolitan Cancer and Infectious Diseases Center
Komagome Hospital, Japan11 ‌Department of Obstetrics and Gynecology, National Hospital Organization Tokyo Medical Center, Japan12 ‌Department of Breast Surgery, National Hospital Organization Tokyo Medical Center, Japan

78

OS-10-5

Pan-cancer and cross-population genome-wide association studies dissect shared
genetic basis underlying carcinogenesis‌ Sato1, Yuya Shirai1,2, Shinichi Namba1, Ryuya Edahiro1, Kyuto Sonehara1,3,4, Tsuyoshi Hata1,
Go
Mamoru Uemura1, Biobank Japan Project5, Koichi Matsuda6, Yuichiro Doki1, Hidetoshi Eguchi1,
Yukinori Okada1,2,3,4
1
2
3
4
5
6

OS-10-6‌
Osaka
University Graduate School of Medicine, Japan‌Immunology Frontier Research Center (WPI-IFReC), Osaka University, Japan‌Graduate School of Medicine, The University of Tokyo, Japan‌RIKEN Center for Integrative Medical Sciences, Japan‌Institute of Medical Science, The University of Tokyo, Japan‌Graduate School of Frontier Sciences, The University of Tokyo, Japan

BRCA testing and Japanese testing criteria for hereditary breast and ovarian cancer
covered by public health insurance‌Kouji Ohta, Tomoko Itoh, Jun Katoh, Ikue Hata
Fukui Prefectural Hospital, Japan

OS-10-7

Functional analysis of the 1p34 risk locus implicates GNL2 in high-grade serous
ovarian cancer‌
Koji
Nakamura, Reina Komatsu, Nao Wakui, Airi Kuruma, Sakaaki Machimura, Mariya Kobayashi,
Mai Koizumi, Hitomi Sakaguchi, Tadashi Oride, Saori Tsuji, Sohmi Kin, Takeshi Goto,
Tadashi Kimura
Osaka University, Japan

OS-10-8

Profiles of cases showing constitutive hypermethylation of the MLH1 promoter region‌Kokichi
Sugano1, Miho Ando1, Sayuri Hiraoka1, Yasuyuki Miyakura2, Moriya Iwaizumi3,
Takeshi Kuwata4, Tadashi Nomizu5, Yosuke Katsube5, Shozo Osumi6, Noriko Tanabe7,
Tomoko Watanabe7, Makoto Hirata7, Teruhiko Yoshida7
1
2
3
4
5
6
7

OS-10-9‌SasakiFoundation, Kyoundo Hospital, Japan‌Saitama Medical Center, Jichi Medical University, Japan‌Clinical and Molecular Genetics Center, Hamamatsu University School of Medicine, Japan‌Department of Pathology and Clinical Laboratories, National Cancer Center Hospital East, Japan‌Department of Surgery, Breast Cancer Center, Familial Tumor Clinic, Hoshi General Hospital, Japan‌Department of Hereditary Tumors, National Hospital Organization, Shikoku Cancer Center, Japan‌Department of Genetic Medicine and Services, National Cancer Center Hospital, Japan

Identification of novel genetic risk factors for pancreatic cancer by SNP functionalannotation‌Federico Canzian, on behalf of the PANDoRA consortium
Genomic Epidemiology Group German Cancer Research Center(DKFZ), Germany

Oral Session 11

Asian Genetics

Date：Saturday, October 14, 2023 8:00 ～ 9:30 Room G（Meeting Room 2, 3F, Zenkoku Toshi Kaikan）
Chairs ：Taisei Mushiroda（‌RIKEN Center for Integrative Medical Sciences, Japan）
Emiko Noguchi（‌University of Tsukuba, Japan）
OS-11-1

Divergence of haplogroup C clade in Y-chromosome among the Japanese populationgroup‌Motoki Osawa1, Zhang Ruogu1, Eriko Ochiai2, Atsushi Ueda1
1
2

OS-11-2‌Tokai
University School of Medicine, Japan‌Kitasato University School of Medicine, Japan

Withdrawn79

OS-11-3

Distinct clinical effects of two RP1L1 hotspots of Miyake disease; Identification of
genotype by deep learning‌ Fujinami-Yokokawa1,2,3,4, Kwangsic Joo5, Xiao Liu1,6,7, Lizhu Yang13, Kazushige Tsunoda8,
Yu
Mineo Kondo9, Seong Joon Ahn10, Satomi Inoue11, Kazuki Yamazawa11, Tatsuo Matsunaga11,
Izumi Naka12, Jun Ohashi12, Hisateru Tachimori14, Hiroaki Miyata2, Ruifang Sui13, Se Joon Woo5,
Kaoru Fujinami1,3,15
1
2
3
4
5

‌
National
Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Japan‌Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan‌UCL Institute of Ophthalmology, London, UK‌Division of Public Health, Yokokawa Clinic, Suita, Japan‌Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University Collegeof Medicine, Seongnam, Republic of Korea
6 ‌Southwest Hospital, Army Medical University, Chongqing, China
7 ‌Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, China
8 ‌Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo
Medical Center, Tokyo, Japan9 ‌Department of Ophthalmology, Mie University Graduate School of Medicine, Mie, Japan10 ‌Department of Ophthalmology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul,
Republic of Korea
11 ‌Department of Medical Genetics, National Hospital Organization Tokyo Medical Center, Tokyo, Japan12 ‌Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Japan13 ‌Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College andChinese Academy of Medical Sciences, Beijing, China
14 ‌Endowed Course for Health System Innovation, Keio University School of Medicine, Tokyo, Japan15 ‌Moorfields Eye Hospital, London, UK

OS-11-4

CXCL12-CXCR4 pathway as an novel therapeutic target for RNF213-associatedvasculopathy‌Takahiro
Hiraide1, Hisato Suzuki2, Mizuki Momoi1, Yoshiki Shinya1, Kenjiro Kosaki1,
Masaharu Kataoka3
1
2
3

OS-11-5‌
Keio
University School of Medicine, Japan‌Tsukuba University School of Medicine, Japan‌University of Occupational and Environmental Health, Japan

Yayoi Genome from the Doigahama site provides insights into the origins of immigrants
to the Japanese archipelago‌Jonghyun
Kim1, Fuzuki Mizuno2, Izumi Naka1, Masami Matsushita3, Takayuki Matsushita4,
Shintaroh Ueda1,2, Kunihiko Kurosaki2, Jun Ohashi1
12
34

OS-11-6‌Departmentof Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan‌Department of Legal Medicine, Toho University School of Medicine, Japan‌The Organization of Anthropological Research, Japan‌Doigahama Site Anthropological Museum, Japan

Gene expression profile of cytokines (IL-6, TNF-alpha and TGF-beta1) in Malay malesubjects with chronic HCV infection‌Imran Ahmad1, Ismail Che Noh2, Richard Avoi2, Nurul Asma Abdullah1, Ruzilawati Abu Bakar112‌Universiti
Sains Malaysia, Malaysia‌Universiti Malaysia Sabah, Malaysia

80OS-11-7

Occult Macular Dysfunction Syndrome: Identification of multiple causative genes ofmacular dysfunction with normal fundus‌Kaoru Fujinami1,2,3, Yu Fujinami-Yokokawa1,3,4, Lishu Yang5, Kwangsic Joo6, Kazushige Tsunoda1,
Xiao Liu1,9, Mineo Kondo7, Izumi Naka8, Jun Ohashi8, Satomi Inoue2, Kazuki Yamazawa2,
Tatsuo Matsunaga1,2, Hisateru Tachimori10, Hiroaki Miyata4, Se Joon Woo6, Ruifang Sui5
1
2
3
4
5

‌
National
Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Japan‌Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan‌UCL Institute of Ophthalmology, London, UK‌Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan‌Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical
Sciences, Beijing, China
6 ‌Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republicof Korea
7 ‌Department of Ophthalmology, Mie University Graduate School of Medicine, Mie, Japan
8 ‌Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan
9 ‌Southwest Hospital, Army Medical University, Chongqing, China
10 ‌Endowed Course for Health System Innovation, Keio University School of Medicine, Tokyo, Japan

OS-11-8

Establishment of the pharmacogene variation database in 967 Japanese individuals
using corePGseq panel‌Koya Fukunaga, Taisei Mushiroda
RIKEN, Japan

OS-11-9

The characterisation of clinical genomic variants in an Asian population andimplications for genetic counselling‌YasminBylstra1, Sock Hoai Chan2, Jing Xian Teo1, Sonia Davila1,3, David Amor4,5, Melody Menezes4,6,
Jan Hodgson4, Joanne Ngeow2,8, Patrick Tan1,7,9, Saumya S. Jamuar1,10,12, Weng Khong Lim1,11
1 ‌SingHealth Duke-NUS Institute of Precision Medicine, Singapore
2 ‌Cancer Genetics Service, National Cancer Centre, Singapore
3 ‌Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore
4 ‌Department of Paediatrics, The University of Melbourne, Victoria, Australia
5 ‌Murdoch Children’s Research Institute, Victoria, Australia
6 ‌Monash Ultrasound for Women, Victoria, Australia
7 ‌Genome Institute of Singapore, Singapore
8 ‌Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore
9 ‌Precision Health Research Singapore (PRECISE), Singapore
10 ‌Genetics Service, KK Women’s and Children’s Hospital, Singapore
11 ‌Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore
12 ‌Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore

Oral Session 12

Pediatric Genetics

Date：Saturday, October 14, 2023 13:40 ～ 15:00 Room G（Meeting Room 2, 3F, Zenkoku Toshi Kaikan）
Chairs ：Wuh-Liang Hwu（‌National Taiwan University Hospital and China Medical University Hospital, Taiwan）
Noriko Miyake（‌Department of Human Genetics, Research Institute, National Center for Global Health andMedicine, Japan）
OS-12-1

Exploring the clinical utility of targeted MECP2 testing in real-world practice‌
SooYeon Kim1, Seoyun Jang2, Jae So Cho1, Jihoon Yoon1, Seungbok Lee1, Man Jin Kim1,
Hyewon Woo3, Byung Chan Lim2, Jong Hee Chae1,2
1
2
3

‌
Departmentof Genomic Medicine, Seoul National University Hospital, Korea‌Department of Pediatrics, Seoul National University Children's Hospital, Korea‌Department of Pediatrics, Chungbuk National University Hospital, Korea

81

OS-12-2

The impact of LECT2, α-SMA, and COL1A1 expressions on liver fibrogenesis in biliaryatresia patients post Kasai surgery‌Fiqih
Vidiantoro Halim1, Gunadi Gunadi1, Diaz Adi Pradana1, Tiara Putri Leksono1,
Laudria Stella Eryvinka1, Adisrasti Rejeki Amaragati1, Kristy Iskandar2, Akhmad Makhmudi1
12

OS-12-3‌
Pediatric
Surgery Division, Department of Surgery / Genetics Working Group / Translational Research Unit,
Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia‌Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada / UGM
Academic Hospital, Yogyakarta, Indonesia

Male-dominant SHOX expression in cartilage tissues: implications for sex differences inadult height‌Atsushi
Hattori1, Atsuhito Seki2, Kazuhiko Nakabayashi1, Yasuhiro Naiki2, Akie Nakamura1,
Keisuke Ishiwata1, Kenji Matsumoto1, Kohji Okamura1, Katoh-Fukui Yuko1, Ogata Tsutomu3,4,
Kagami Masayo1, Maki Fukami1
12
34

OS-12-4‌National
Research Institute for Child Health and Development, Japan‌National Center for Child Health and Development, Japan‌Hamamatsu University School of Medicine, Japan‌Hamamatsu Medical Center, Japan

Development of an automatic interpretation tool for copy-number variants‌Chiaki Hosaka1,2, Kenichiro Kori1,2, Satoshi Yuhara1,2
1
2

OS-12-5‌SRL,Inc., Japan‌H.U. Group Research Institute, LLC, Japan

Comprehensive genetic analysis of 9 families with hereditary Wolff-Parkinson-White
syndrome‌
Hidenori
Yamamoto1, Hidehito Inagaki2, Kiyotaka Go1, Yoshihito Morimoto1, Yoshie Fukasawa1,
Hiroko Goto3,4, Sayaka Mii5, Hiroki Kurahashi2, Taichi Kato1
1
2
3
4
5

OS-12-6‌Departmentof Pediatrics, Nagoya University Graduate School of Medicine, Japan‌Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Japan‌Department of Pediatric Cardiology, Nagoya Tokushukai General Hospital, Japan‌Department of Pediatric Cardiology, Gifu Prefectural General Medical Center, Japan‌Department of Pediatric Cardiology, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Japan

Rare sequence variants associated with the risk of non-syndromic biliary atresia‌SatoshiTamaoka1,3, Akinari Fukuda2, Yuki Muranishi1, Kazuhiko Nakabayashi1, Keiko Matsubara1,2,
Hiroko Ogata-Kawata1, Kenichiro Hata1, Yuko Katoh-Fukui1, Seisuke Sakamoto2, Mureo Kasahara2,
Maki Fukami1
1
2
3

OS-12-7‌National
Research Institute for Child Health and Development, Japan‌National Center for Child Health and Development, Japan‌Keio University School of Medicine, Japan

Comprehensive molecular and clinical analysis in 30 cases with multilocus imprinting
disturbance‌TatsukiUrakawa1,2, Kaori Yamoto3, Kaori Hara-Isono1, Keiko Matsubara1, Maki Fukami1,
Shinji Saitoh4, Hidenobu Soejima5, Tsutomu Ogata1,3, Masayo Kagami1
1
2
3
4
5

OS-12-8‌National
Research Institute for Child Health and Development, Japan‌Dept. of Pediatr., Nagasaki Univ. Sch. of Med., Japan‌Dept. of Biochem., Hamamatsu Univ. Sch. of Med., Japan‌Dept., of Pediatr. and Neonatol., Nagoya City Univ. Grad. Sch. of Med., Japan‌Division of Mol. Genetics and Epigenetics, Dept. of Biomol. Sciences, Faculty of Med., Saga Univ., Japan

GATA2 expressions and methylation pattern in multifactorial Hirschsprung disease‌Kevin Eliezer Ferdinandus1, Alvin Santoso Kalim1, Nova Yuli Prasetyo Budi1, Laudria Stella Eryvinka1,
Setiani Silvy Nurhidayah1, Kristy Iskandar2, Dwi Aris Agung Nugrahaningsih3, Gunadi Gunadi1
1
2
3

‌
Pediatric
Surgery Division, Department of Surgery / Genetics Working Group, Faculty of Medicine, Public
Health and Nursing, Universitas Gadjah Mada / Dr.Sardjito Hospital, Yogyakarta, Indonesia‌Department of Child Health / Genetics Working Group, Faculty of Medicine, Public Health and Nursing,
Universitas Gadjah Mada / UGM Academic Hospital, Yogyakarta, Indonesia‌Department of Pharmacology and Therapy / Genetics Working Group, Faculty of Medicine, Public Health andNursing, Universitas Gadjah Mada, Yogyakarta, Indonesia

82

Oral Session (Japanese)
Oral Session (Japanese)

Gentic Counseling in Asia

Japanese
Session

Date：Thursday, October 12, 2023 10:10 ～ 11:40 Room G（Meeting Room 2, 3F, Zenkoku Toshi Kaikan）
Chairs ：Shinji Kosugi（‌Kyoto University, Japan）
Akihiro Sakurai（‌Department of Medical Genetics and Genomics, Sapporo Medical University School of
Medicine, Japan）
OJ-1

Preliminary screening for hereditary breast and ovarian cancer using a Chatbot:
Interview survey in a Clinical Setting‌Sato Ann1, Eri Haneda1, Yukihiko Hiroshima2,3, Hiroto Narimatsu1,4,5
1
2
3
4
5

OJ-2

‌
Departmentof Genetic Medicine, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan‌Department of Cancer Genome Medicine, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan‌Advanced Cancer Therapy Division, Kanagawa Cancer Center Research Institute, Yokohama, Kanagawa, Japan‌Cancer Prevention and Cancer Control Division, Kanagawa Cancer Center Research Institute, Yokohama,
Kanagawa, Japan‌Graduate School of Health Innovation, Kanagawa University of Human Services, Kawasaki, Kanagawa, Japan

Changes in trends in genetic nursing practice in breast and gynecologic oncology overthe past five‌
HiromiMoriya1, Masako Shomura1, Naho Yaguchi1, Banri Tsuda1, Tetsuya Urano1,
Yoshiro Yamamoto2
1
2

OJ-3

‌
Tokai
University School of Medicine, Japan‌Tokai University School of Science, Japan

A case of hyperkalemic periodic paralysis with self-interpretation of the illness‌Hisatsugu Tachibana1, Yuka Hattori2, Yuka Yotsumoto2, Tomoko Tamaoki3
1
2
3

OJ-4

‌
Departmentof Neurology, Takatsuki General Hospital, Japan‌Department of Pediatrics, Takatsuki General Hospital, Japan‌Center for Clinical and Molecular Genetics, Takatsuki General Hospital, Japan

Challenges in supporting perinatal decision for parents of children with de novo
monogenic disorders‌Fumi Kurebayashi1,2, Kousuke Yamada1, Takakazu Kawamura3, Kenji Shimizu1
1
2
3

OJ-5

‌
ShizuokaChildren’s Hospital, Japan‌Department of Medical Genetics, Shizuoka General Hospital, Japan‌Perinatal Medical Center, Shizuoka Children’s Hospital, Japan

Charcot-Marie-Tooth disease type IA revealed by chromosomal microarray testing in apatient with Miller-Dieker syndrome‌
Reimi
Sogawa1, Tomoyuki Akiyama2, Eriko Eto3, Mashu Futagawa1, Fumino Kato1,
Hideki Yamamoto1,4, Akira Hirasawa1,4, iori Ohmori5, Katsuhiro Kobayashi2
1
2
3
4
5

OJ-6

‌
Departmentof Clinical Genetics and Genomic Medicine, Okayama University Hospital, Japan‌Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry andPharmaceutical Sciences, Japan‌Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry andPharmaceutical Sciences, Japan‌Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry andPharmaceutical Sciences, Japan‌Section of Developmental Physiology and Pathology, Faculty of Education, Okayama University, Japan

A case of pre-symptomatic testing and genetic counseling on infantile metachromatic
leukodystrophy‌Motomichi
Kosuga, Tetsumin So, Satoko Tsushima, Yasuyuki Fukuhara, Rika Kosaki,
Torayuki Okuyama, Haruhiko Sago
National Center for Child Hearth and Development, Japan

83

Parents' knowledge, anxiety, and understanding regarding genetic testing for children
with hearing loss

OJ-7

‌Kayono Yamamoto1, Yumiko Kobayashi1, Akimune Fukushima1, Mari Urano2, Fumie Aizawa1
1
2

‌
Iwate
Medical University, Japan‌Tokyo Women's Medical University, Japan

A case of an unaffected female BRCA1 pathogenic variant carrier (previvor) who
expressed guilty feeling to the proband

OJ-8

‌
Hiromi
Sugawara, Megumi Mukai, Sadia Matsutani, Miyuki Kawamura, Takashi Shibutani,
Saki Hinoshita, Kazuo Tamura, Koji Matsumoto
Hyogo Cancer Center, Japan

Poster Session
Poster Session 1-01
Date

Complex Diseases and Genomic Risk Assessment 1：Thursday, October 12, 2023

P1-01-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Family history of developmental dysplasia of the hip is a risk factor for the progressionof hip osteoarthritis‌Soichiro Yoshino1,2, Ryosuke Yamaguchi2, Hidenao Tanaka2, Shiro Ikegawa1, Yasuharu Nakashima2,
Chikashi Terao1
12

P1-01-2‌
RIKEN,Japan‌Graduate School of Medical Sciences, Kyushu University, Japan

The impact of Collagen gene cluster expressions on liver fibrogenesis in biliary atresia‌DonnyAditia, Dyah Ayu Puspitarani, Khanza Adzkia Vujira, Fadila Dyah Trie Utami,
Fiqih Vidiantoro Halim, Kristy Iskandar, Akhmad Makhmudi, Gunadi Gunadi
Universitas Gadjah Mada, Indonesia

P1-01-3

High frequency of MYBPC3 copy number variations in patients with hypertrophic
cardiomyopathy‌
Seiko
Ohno1, Koichi Kato2, Erina Ozaki3, Keiko Sonoda1, Shigehiro Miyazaki3, Mariko Eguchi3,
Yoshihiko Ikeda1, Osamu Yamaguchi3, Takeshi Aiba1
1
2
3

P1-01-4‌National
Cerebral and Cardiovascular Center, Japan‌Shiga University of Medical Science, Japan‌Ehime University Graduate School of Medicine, Japan

A glance into the genetics of body dysmorphic disorder (BDD)‌MohammadHilal Atthariq Ramadhan1, Ziske Maritska2,3, Bintang Arroyantri Prananjaya4,
5
Nita Parisa
1
2
3
4
5

P1-01-5‌Facultyof Medicine, Universitas Sriwijaya, Indonesia‌Department of Biology Medicine, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia‌Indonesian Society of Genetic Counselors (ISGC), Indonesia‌Department of Psychiatry, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia‌Department of Pharmacology, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia

Molecular genetic analysis of dyslipidemia in Iran‌
Nejat
Mahdieh1, Bahareh Rabbani2, Mohadesh Alimoghadam1, Shiva Esmaeili2, Sara Nematolahi2,
Leila Hejazi1
12‌RajaieCardiovascular Research Center, Iran‌Growth and Development Research Center, Ogene, Iran84

P1-01-6

Genome-wide association study identifies candidate loci associated with postoperative
nausea and/or vomiting‌Daisuke Nishizawa1, Ryozo Morino2, Miyuki Yokota3,4, Seii Ohka1, Shinya Kasai1, Junko Hasegawa1,
Yuko Ebata1, Kyoko Nakayama1, Kazutaka Ikeda1
12
34

P1-01-7‌Tokyo
Metropolitan Institute of Medical Science, Japan‌Koujinkai Daiichi Hospital, Japan‌Cancer Institute Hospital, Japan‌East Hokkaido Hospital, Japan

Clinical characteristics & hearing impairment in mitochondrial DNA mutation‌NatsumiUehara, Takeshi Fujita, Hikari Shimoda, Sayaka Katsunuma, Ryosuke Bo, Akinobu Kakigi,
Akiharu Kubo, Ken-ichi Nibu
Kobe University Graduate School of Medicine, Japan

P1-01-8

Eosinophilic gastroenteritis in a Noonan syndrome patient with PTPN11 variation‌Nobuhiko
Koga, Takahito Inoue, Kei Kubota, Toshikazu Niimi, Shuuichi Yatsuga,
Shinichirou Nagamitsu
Fukuoka University, Japan

P1-01-9

Characterization of a dicentric Y chromosome due to complex rearrangements inpseudoautosomal region 1‌YasukoOgiwara1,2, Atsushi Hattori1,3, Mami Miyado1, Yoshitomo Kobori5,6,7, Yoko Kuroki3,4,8,
Maki Fukami1,3
1
2
3
4
5
6
7
8

P1-01-10‌
Dept.
of Molecular Endocrinology, National Research Institute for Child Health and Development, Japan‌Dept. of Advanced Pediatric Medicine, Tohoku University School of Medicine, Japan‌Div. of Diversity Research, National Research Institute for Child Health and Development, Japan‌Dept. of Genome Medicine, National Research Institute for Child Health and Development, Japan‌Dept. of Urology, Dokkyo Medical University, Saitama Medical Center, Japan‌Dept. of Reproduction Center, Dokkyo Medical University, Saitama Medical Center, Japan‌Private Care Clinic Tokyo, Japan‌Div. of Collaborative Research, National Research Institute for Child Health and Development, Japan

Genome-to-genome analysis to identify specific host-pathogen genetic interaction
points in tuberculosis‌YosukeOmae1, Licht Toyo-Oka2, Hideki Yanai3, Reiko Miyahara1, Jody Phelan4,
Paula Josefina Gomez-Gonzalez4, Nuria Andreu4, Supalert Nedsuwan5, Paola Florez de Sessions6,
Susana Campino4, Neneh Sallah4, Julian Parkhill7, Nat Smittipat8, Prasit Palittapongarnpim8,
Taisei Mushiroda9, Michiaki Kubo9, Surakameth Mahasirimongkol10, Martin L. Hibberd4,
Taane G. Clark4, Katsushi Tokunaga1
1 ‌National Center for Global Health and Medicine (NCGM), Japan2 ‌Toyama University of International Studies, Japan
3 ‌Japan Anti-Tuberculosis Association, Japan
4 ‌London School of Hygiene and Tropical Medicine, UK
5 ‌Chiangrai Prachanukroh Hospital, Thailand
6 ‌Genomics Institute Singapore, Singapore
7 ‌University of Cambridge, UK
8 ‌National Science and Technology Development Agency, Thailand
9 ‌RIKEN Center for Integrative Medical Sciences, Japan10 ‌Ministry of Public Health, Japan

P1-01-11

Situation analysis of access to genetic services among female Thai patients with breast
Cancer‌Chayaluck Siripukdeekan, Acharaporn Seeherunwong
Mahidol University, Thailand

P1-01-12

Evaluating mediation effect of obesity on the relationship between polygenic scoresand comorbidities: TMM CommCohort‌
Yoichi
Sutoh, Tsuyoshi Hachiya, Yayoi Otsuka-Yamasaki, Shohei Komaki, Shiori Minabe,
Hideki Ohmomo, Makoto Sasaki, Atsushi Shimizu
Iwate Medical University, Japan85

P1-01-13

Genome-wide association analysis and polygenic risk score model for predicting
paroxysmal atrial fibrillation‌Megumi Shiomi1, Yuki Nagata1,2, Takeaki Sudo3, Takamasa Ichikawa2, Kensuke Ihara4, Ken Asada5,
Yasuaki Tanaka6, Yasuteru Yamauchi7, Takeshi Sasaki8, Hitoshi Hachiya9, Yasushi Imai10,
Hideo Fujita11, Tetsuo Sasano12, Tetsushi Furukawa4, Toshihiro Tanaka1,2
1‌
Departmentof Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo
Medical and Dental University, Tokyo, Japan
2 ‌Bioresource Research Center, Tokyo Medical and Dental University, Tokyo, Japan
3 ‌Institute of Education, Tokyo Medical and Dental University, Tokyo, Japan4 ‌Department of Bio-informational Pharmacology, Medical Research Institute, Tokyo Medical and Dental
University, Tokyo, Japan
5 ‌Cancer Translational Research Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan
6 ‌Cardiovascular Center, Yokosuka Kyosai Hospital, Kanagawa, Japan
7 ‌Department of Cardiology, Japan Red Cross Yokohama City Bay Hospital, Kanagawa, Japan
8 ‌Department of Cardiology, National Hospital Organization Disaster Medical Center, Tokyo, Japan
9 ‌Cardiovascular Center, Tsuchiura Kyodo Hospital, Ibaraki, Japan10 ‌Division of Clinical Pharmacology, Department of Pharmacology, Jichi Medical University, Tochigi, Japan11 ‌Division of Cardiovascular Medicine, Saitama Medical Center, Jichi Medical University, Saitama, Japan12 ‌Department of Cardiovascular Medicine, Tokyo Medical and Dental University, Tokyo, Japan

Poster Session 1-02
Date

Inherited Metabolic Diseases and Newborn Screening 1：Thursday, October 12, 2023

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

P1-02-1

Withdrawn

P1-02-2

Successful diagnosis of Sengers Syndrome using comprehensive genomic analysis‌
Kohta
Nakamura1, Yukiko Yatsuka1, Atsuko Imai-Okazaki1, Sachie Naito3, Akira Hasegawa4,
Takeya Kasukawa4, Atsushi Kondo4, Yohei Suigyama2,6, Tomoko Tsuruoka5, Tomohiro Ebihara6,
Takanori Onuki6, Keiko Ichimoto6, Akira Ohtake7,8, Kei Murayama1,6, Yasushi Okazaki1,4
1
2
3
4
5
6
7
8

P1-02-3‌Diagnostics
and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of
Medicine, Juntendo University, Japan‌Department of Pediatrics, Juntendo University Faculty of Medicine, Japan‌Department of Pediatrics, Funabashi Central Hospital, Japan‌Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Japan‌Department of Neonatology, Chiba Children’s Hospital, Japan‌Department of Metabolism, Chiba Children's Hospital, Japan‌Department of Pediatrics ＆ Clinical Genomics Diseases, Saitama Medical University, Japan‌Center for Intractable Diseases, Saitama Medical University Hospital, Japan

Next generation sequencing in Japanese patients with Maturity-Onset Diabetes of theyoung‌Satoshi Tanaka, Naoko Iwasaki, Kenko Azuma, Sayaka Higuchi, Hiroyuki Akagawa, Shohei Mitani
Tokyo Women’s Medical University, Japan

P1-02-4

Discrepancy in insurance covered LDLR genetic testing in familial
hypercholesterolemia: A case report‌KeikoGoto-Hirano1,2, Hidetaka Eguchi3, Yasushi Okazaki3, Atsuko Okazaki3, Masami Arai1,
Takao Kato2, Hirotoshi Ohmura2, Hiroyuki Daida2,4, Tohru Minamino2
12
3
4

P1-02-5‌Departmentof Clinical Genetics, Juntendo University, Japan‌Department of Cardiovascular Biology and Medicine, Juntendo University, Japan‌Intractable Disease Research Center, Diagnostics and Therapeutics of Intractable Diseases, Juntendo University
Graduate School of Medicine, Japan‌Faculty of Health Sciences, Juntendo University, Japan

Phenotype and genotype of vietnamese patients with combined pitutary hormone
deficiency‌Thu Ha Nguyen, Chi Dung Vu, Phuong Thao Bui, Ngoc Khanh Nguyen, Thi Bich Ngoc Can
Vietnam National Children’s Hospital, Department of Pediatric Endocrinology and Diabetes, Center for
Endocrinology, Metabolism, Genetics / Genomics and Molecular Therapy, Vietnam

86

P1-02-6Pre-liver transplantation rapid genetic diagnosis in a patient with Wilson disease‌Tomomi
Yamaguchi1,2,3, Tomomi Fujikawa3, Yuri Takiguchi3, Akiko Sakyu1, Atsuyoshi Mita4,
Yuji Soejima4, Tomoki Kosho1,2,3,5
1
2
3
4
5

‌
Centerfor Medical Genetics, Shinshu University Hospital, Japan‌Department of Medical Genetics, Shinshu University School of Medicine, Japan‌Division of Clinical Sequencing, Shinshu University School of Medicine, Japan‌Division of Gastroenterological, Hepato-Biliary-Pancreatic, Transplantation and Pediatric Surgery, Departmentof Surgery, Shinshu University School of Medicine, Japan‌Research Center for Supports to Advanced Science, Shinshu University, Japan

Poster Session 1-03
Date

Prenatal Genetics 1：Thursday, October 12, 2023

P1-03-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Chromosome analysis of 3PN and 2.1PN embryos by NGS‌Daisuke
Nakajima1,2, Shohei Komemoto1, Youichi Takemoto1, Motoi Nagayoshi1, Yuya Makino1,3,
Izumi Tanaka1, Atsushi Tanaka1
1
2
3

P1-03-2‌SaintMother Clinic, Japan‌Occupational and Environmental Health University School of Medicine, Japan‌Juntendo University School of Medicine, Japan

Analysis of clients’ evaluation after launching an online disclosure of prenatal
counseling results‌
Koichiro
Kido, Miho Aoki, Noriko Nakabayashi, Chikara Kihira, Miki Nishizawa, Keita Yatsuki,
Hedeo Kamata, Haruko Hiraike, Yukifumi Sasamori, Eiji Ryo, Hidemi Okishio, Masakazu Mimaki,
Kiyotaka Watanabe, Kazunori Nagasaka
Teikyo University, Japan

P1-03-3

Transitions of background for non-invasive perinatal testing; a single center analysis‌
Kyoko
Kumagai1, Nobuhiro Suzumori1, Eri Takeda1, Ayano Otani1, Shinobu Goto1, Iku Taguchi1,2,
Kiwa Yamaoka1,3, Rin Sato1,3, Ayako Tanabe1,4, Mayumi Sugiura1
12
3
4

P1-03-4‌NagoyaCity University Hospital, Japan‌National Hospital Organization Nagoya Medical Center, Japan‌Nagoya Ekisaikai Hospital, Japan‌Toyota Memorial Hospital, Japan

Prenatal diagnosis of true fetal mosaicism: Four cases report‌Nobuhiko Hayashi, Momoko Kato
The Fetal Clinic Tokyo-bay Makuhari, Japan

P1-03-5

Gene signatures in genetically homogeneous trisomy 21 and euploid at the induced
pluripotent stem cell level‌Ryotaro Hashizume1, Hiroshi Imai1, Sachiko Wakita1, Mari Hara1, Hiroki Kurahashi2
1
2

P1-03-6‌
Mie
University, Japan‌Fujita Health University, JapanThe contribution of monogenic and oligogenic causes to the etiology of idiopathic
non-obstructive azoospermia‌
Yuki
Muranishi1, Yoshitomo Kobori2, Yuko Katoh-Fukui1, Satoshi Tamaoka1, Atsushi Hattori1,
Kazuhiko Nakabayashi1, Hiroko Ogata-Kawata1, Maki Fukami1
1
2

P1-03-7‌National
Research Institute for Child Health and Development, Japan‌Dokkyo Medical University Saitama Medical Center, Japan

Analysis of 19 cases of autosomal recessive genetic disorders consulted for PGT-M‌
Yoshiharu
Nakaoka1, Michiko Ammae1, Naoya Tsuji1, Haruhisa Konishi1, Sho Fujiwara1,
Hiroko Yamauchi1, Naoharu Morimoto1, Kanako Katsu1, Yoshiharu Morimoto2
1
2

‌
IVF
Namba Clinic, Japan‌HORAC Grant Front Osaka Clinic, Japan87

P1-03-8

A case of osteogenesis imperfecta with possible maternal somatic cell mosaicism
detected by deep sequencing‌FuyukiHasegawa1, Asuka Hori2,3, Kousuke Taniguchi4, Jin Muromoto1,5, Rika Sugibayashi1,5,
Katsusuke Ozawa1,5, Seiji Wada1,5, Haruhiko Sago1,5, Kenichiro Hata4
1
2
3
4
5

P1-03-9‌Centerfor Medical Genetics, National Center for Child Health and Development, Japan‌Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Japan‌Nursing Department, Nippon Medical School Musashi Kosugi Hospital, Japan‌Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Japan‌Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health andDevelopment, Japan

PGT-M of duplicated Duchenne muscular dystrophy suspected to be germline
mosaicism‌Michiko Ammae1, Tatsuya Nakano1, Hiroko Yamauchi1, Yoshiharu Nakaoka1, Yoshiharu Morimoto2
1
2

P1-03-10‌Sunkaky
Medical Corporation IVF Namba Clinic, Japan‌Sunkaky Medical Corporation HORAC Grand Front Osaka Clonic, JapanFirst successful preimplantation genetic testing for the m.8993T>G mutation in Japan‌Yuki Mizuguchi1,2, Kou Sueoka1, Suguru Sato1, Mamoru Tanaka1
1
2

P1-03-11‌
Keio
University School of Medicine, Japan‌Nasu Red Cross Hospital, Japan

Presence of small 21p-21p chromosome in mosaic rob(21;21) carrier‌ Kawamura1, Ikumi Moriyama2, Shunsaku Fujii3, Takeshi Iwasa4, Akira Kuwahara4,
Rie
Minoru Irahara4, Ei Yuzawa5, Hiroki Kurahashi1,2
1
2
3
4
5

P1-03-12‌
Divisionof Molecular Genetics, Fujita Health University, Japan‌Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Japan‌ef.clinic, Aomori, Japan‌Department of Obstetrics and Gynecology, Institute of Biomedical Sciences, Tokushima University Graduate
School, Tokushima, Japan‌Yuzawa Ladies Clinic, Hirosaki, Japan

Does application of chromosomal analysis in products of miscarriage effect on mother’sgrief ？
‌Chenghua Zhu1, Yodo Sugishita2, Ohsuke Migita3
1
2
3

P1-03-13‌Kyoritsu
Obstetrics and Gynecology Clinic, Japan‌Department of Frontier Medicine, St. Marianna University Graduate School of Medicine, Japan‌Department of Laboratory Medicine, St. Marianna University School of Medicine, Japan

Chromosome analysis using next generation sequencing (NGS) of vanishing twin after
term delivery‌
Saori
Tsuji, Tsuyoshi Takiuchi, Hidemine Honda, Mika Handa, Takeshi Goto, Nao Wakui,
Sakaaki Machimura, Airi Kuruma, Aiko Okada, Tatsuya Miyake, Mahiru Kawano, Tadashi Kimura
Osaka University, Japan

Poster Session 1-04
Date

Neurology 1：Thursday, October 12, 2023

P1-04-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Topologically associating domains define the impact of de novo promoter variants on
autism spectrum disorder risk‌
Shota
Mizuno1, Takumi Nakamura1, Junko Ueda1, Kurara Honda1, An-a Kazuno1,
Hirona Yamamoto1,2, Tomonori Hara1,3, Atsushi Takata1,4
1
2
3
4

‌
Laboratory
for Molecular Pathology of Psychiatric Disorders, RIKEN Center for Brain Science, Japan‌Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, Japan‌Department of Organ Anatomy, Tohoku University Graduate School of Medicine, Japan‌Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Japan88

P1-04-2

Is MECP2 the causative gene of MECP2 duplication syndrome?
‌Keiko
Akahoshi1, Eiji Nakagawa2, Jun Minato1, Yumiko Oono1, Keiko Wada1, Michiko Makino1,
Yu-ichi Goto3,4, Ken Inoue3
1
2
3
4

P1-04-3‌TokyoChildren’s Rehabilitation Hospital, Japan‌Department of Child Neurology, National Center of Neurology and Psychiatry, Japan‌Department of Mental Retardation and Birth Defect Research, Japan‌Medical Genome Center, National Center of Neurology and Psychiatry, Japan

Missense and nonsense compound heterozygous ATP1A2 variants in a viable patientwith FARIMPD‌
Shogo
Furukawa1, Mitsuhiro Kato2, Toshihiro Nomura4, Noriko Sumitomo3, Shota Yoneno5,
Mitsuko Nakashima1, Hirotomo Saitsu1
1
2
3
4
5

P1-04-4‌Hamamatsu
University School of Medicine, Japan‌Showa University School of Medicine, Japan‌National Center of Neurology and Psychiatry, Japan‌JA Toride Medical Center, Japan‌Mie University, Japan

Cases of Becker muscular dystrophy with nonsense mutations in the dystrophin gene‌Yoshiyuki
Katayama1, Tomoko Lee1, Miki Matsui1, Sachi Tokunaga1, Naoko Taniguchi1,
Hideki Shimomura1, Yoko Yokoyama2, Yukihiro Noda3, Jun Matsui4, Katsuhiko Yoshii5,
Yasuhiko Takeshima1
1
2
3
4
5

P1-04-5‌Departmentof Pediatrics, Hyogo Medical University, Nishinomiya, Japan‌Department of Pediatrics, Meiwa Hospital, Nishinomiya, Japan‌Department of Pediatrics, Saiseikai Noe Hospital, Osaka, Japan‌Department of Pediatrics, Yamatokoriyama Hospital, Yamatokoriyama, Japan‌Department of Pediatrics, Chibune General Hospital, Osaka, Japan

Long-read sequencing analysis of Japanese myotonic dystrophy type 2‌Satomi
Mitsuhashi1, Keiji Tachikawa1, Takashi Kimura2, Ruriko Kitao3, Shigehisa Ura4, Yui Sanpei8,
Homare Funasaka8, Yoshihisa Yamano1, Yuta Kochi9, Laura P.W. Ranum5, Kinji Ohno6,
Tohru Matsuura7
1
2
3
4
5
6
7
8
9

P1-04-6‌ Marianna University School of Medicine, JapanSt.
‌Asahikawa Medical Center, Japan‌National Hakone Hospital, Japan‌Japanese Red Cross Asahikawa Hospital, Japan‌McKnight Brain Institute, USA‌Nagoya University Graduate School of Medicine, Japan‌Jichi Medical University, Japan‌Akita University Graduate School of Medicine, Japan‌Tokyo Medical and Dental University, Japan

Identification of a new ITPR1 mutation for autosomal dominant cerebellar ataxia‌Kinya Ishikawa
Tokyo Med. & Dental Univ., Japan

P1-04-7

The Role of RNA and genome analysis in unraveling a deep intronic variant in a familywith Duchenne muscular dystrophy‌Sok Kun Tae1, Meow Keong Thong1,2, Rifhan Azwani Mazlan212‌Genetic
and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University Malaya, Malaysia‌Genetic Medicine Unit, University Malaya Medical Centre, Kuala Lumpur, Malaysia

89

Poster Session 1-05
Date

Technological Advances, Wet and Dry 1：Thursday, October 12, 2023

P1-05-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Methylation quantitative trait loci (mQTL) of umbilical cord tissue DNA in a Japanesecohort‌
TomokoTakahashi1,2, Kenichi Sakurai3, Midori Yamamoto4, Rieko Takatani4, Yoichiro Kamatani2,5,
Chisato Mori4,6
1
2
3
4
5
6

P1-05-2‌Project
Division of Genomic Medicine and Disease Prevention, The Institute of Medical Science, The Universityof Tokyo, Japan‌Center for Preventive Medical Sciences, Chiba University, Japan‌Department of Nutrition and Metabolic Medicine, Center for Preventive Medical Sciences, Chiba University,Japan‌Department of Sustainable Health Science, Center for Preventive Medical Sciences, Chiba University, Japan‌Laboraotry of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate
School of Frontier Sciences, The University of Tokyo, Japan‌Department of Bioenvironmental Medicine, Graduate School of Medicine, Chiba University, Japan

Genotype imputation performance of 3.5KJPNv2 from the Tohoku Medical Megabank
Project in a distinct genome cohort‌Sachiko Ishida1, Kaname Kojima2,3, Ryuichiro Kurata1, Satoru Ishida1, Kengo Kinoshita2,4,5,6
1
2
3
4
5
6

P1-05-3‌
DeNALife Science, Inc., Japan‌Tohoku Medical Megabank Organization, Tohoku University, Japan‌RIKEN Center for Advanced Intelligence Project, Japan‌Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Japan‌Graduate School of Information Sciences, Tohoku University, Japan‌Institute of Development, Aging and Cancer, Tohoku University, Japan

Efficient dimensionality reduction method for large-scale genomic data analysis‌Kazuharu Misawa1,2
1
2

P1-05-4‌Yokohama
City University, Japan‌Riken AIP Center, Japan

Exploration of blood-based biomarkers to predict the progression of Alzheimer's
disease by RNA-sequencing data analysis‌
Akiko
Yamakawa1, Risa Mitsumori1, Mutsumi Suganuma1, Shintaro Akiyama1, Shumpei Niida2,
Kouichi Ozaki1,3, Daichi Shigemizu1,3
1
2
3

P1-05-5‌
MedicalGenome Center, Research Institute, National Center for Geriatrics and Gerontology, Japan‌Core Facility Administration, Research Institute, National Center for Geriatrics and Gerontology, Japan‌RIKEN Center for Integrative Medical Sciences, Japan

Co-infection of polyomavirus and SARS-CoV-2 detected by enrichment-based wholegenome sequencing: A case report‌EsensiGeometri1, Marcellus Marcellus1, Dyah Ayu Puspitarani1, Fadila Dyah Trie Utami1,
Kristy Iskandar5, Hendra Wibawa4, Mohamad Saifudin Hakim3, Gunadi Gunadi2
1
2
3
4
5

P1-05-6‌Genetics
Working Group / Translational Research Unit, Faculty of Medicine, Public Health and Nursing,
Universitas Gadjah Mada, Indonesia‌Pediatric Surgery Division, Department of Surgery / Genetics Working Group / Translational Research Unit,
Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada / Dr. Sardjito Hospital, Yogyakarta,
Indonesia‌Department of Microbiology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada,
Yogyakarta, Indonesia‌Disease Investigation Center Wates, Directorate General of Livestock and Animal Health Services, Ministry ofAgriculture, Yogyakarta, Indonesia‌Department of Child Health / Genetics Working Group, Faculty of Medicine, Public Health and Nursing,
Universitas Gadjah Mada / UGM Academic Hospital, Yogyakarta, Indonesia

miRNAs profiling in a complex multifactorial Hirschsprung disease.‌ Gunadi1, Dyah Ayu Puspitarani1, . Puspitarani1, William Widitjiarso1, Dwiki Afandy1, . Afiahayati2,
Kristy Iskandar1
1
2‌Facultyof Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Indonesia‌Faculty of Mathematics and Natural Sciences, Universitas Gadjah Mada, Indonesia

90P1-05-7

Microbiome of the reproductive tract in the menstrual cycle correlates with IVF
outcome‌
Mio
Fukuoka1, Mitsutoshi Yamada1, Reina Ooka1, Yuichi Matsuzawa1, Maki Iwai1, Shintaro Kamijo1,
Jumpei Sasabe2, Kenji Miyado3, Wataru Yamagami1, Mamoru Tanaka1
1
2
3

P1-05-8‌
Keio
University School of Medicine, Japan‌Department of Pharmacology School of Medicine, Keio University School of Medicine, Japan‌Center for Regenerative Medicine, National Center for Child Health and Development, Japan

Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in apatient with Meckel syndrome‌Sachiko Miyamoto1, Kazuyuki Nakamura2, Mitsuhiro Kato3, Mitsuko Nakashima1, Hirotomo Saitsu1
1
2
3

‌
Hamamatsu
University School of Medicine, Japan‌Yamagata University, Japan‌Showa University School of Medicine, Japan

P1-05-9

Withdrawn

P1-05-10

Uncovering deafness-causing single nucleotide variants in STRC through long-read
nanopore sequencing‌Hideaki Moteki1,2, Shin-ya Nishio1, Shin-ichi Usami1
1
2

P1-05-11‌Department
of Hearing Implant Sciences, Shinshu University School of Medicine, Japan‌Department of Clinical Genetics, Aizawa Hospital, Japan

Novel non-invasive preimplantation genetic testing for aneuploidy algorithm based oncell-free ncRNA expression profiles‌TasukuMariya1, Takeshi Sugimoto2, Akira Yanagihara3, Rie Kawamura2, Makiko Tsutsumi2,
Hidehito Inagaki2, Tsuyoshi Saito1, Akihiro Sakurai1, Hiroki Kurahashi2
12
3

P1-05-12‌
SapporoMedical University, Japan‌Fujita Health University, Japan‌OVUS Corporation, Japan

Novel genetic variants in pulmonary hypertension via exome sequencing in Koreans‌Jungmin Choi, Moonyoung Lee
Department of Biomedical Sciences, Korea University College of Medicine, Korea

Poster Session 1-06
Date

Hemoglobinpathies：Thursday, October 12, 2023

P1-06-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Molecular characterization of Alpha-globin genes in the Filipino population‌Catherine
Lynn T. Silao1, Maria Liza T. Naranjo3,4, Ronnette Anne E. Davila2,
Terence Diane F. Fabella2, Angelika Claudia A. Balitaan2, Edward Niño P. Garcia2,
Michael Aeron DT. Cruzat2, Mark John Girasol5, Mayceemae M. Barnuevo2, Carmencita D. Padilla1,
Ernesto dJ. Yuson4
1
2
3
4
5

‌
Instituteof Human Genetics, National Institutes of Health, College of Medicine and Philippine General Hospital,
University of the Philippines, Manila, Philippines‌Institute of Human Genetics, National Institutes of Health, Philippines‌National Children’s Hospital, Quezon City, Philippines‌Lung Center of the Philippines, Quezon City, Philippines‌College of Medicine, University of the Philippines, Manila, Philippines91

P1-06-2

Prevalence of the most common Beta-Globin gene mutations in Filipino betathalassemia patients‌Catherine
Lynn T. Silao1, Maria Liza T. Naranjo3,4, Ronnette Anne E. Davila2,
Terence Diane F. Fabella2, Thomas Gabriel H. Desengaño2, Carl Angelo S. Estrada2,
Carmencita D. Padilla1, Ernesto dJ. Yuson412
34P1-06-3‌Instituteof Human Genetics, National Institutes of Health, College of Medicine and Philippine General Hospital,
University of the Philippines Manila, Philippines‌Institute of Human Genetics, National Institutes of Health, Philippines‌National Children’s Hospital, Quezon City, Philippines‌Lung Center of the Philippines, Quezon City, Philippines

Frequency of thalassemia and hemoglobinopathies in the Philippines screened by highperformance liquid chromatography‌
Ronnette
Anne Davila1, Catherine Lynn Silao1,2, Carl Angelo Estrada1, Ma. Liza Naranjo3,4,Ernesto Yuson412
34P1-06-4‌Instituteof Human Genetics, National Institutes of Health, Philippines‌Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines,
Manila, Philippines‌National Children’s Hospital, Quezon City, Philippines‌Lung Center of the Philippines, Quezon City, Philippines

Clinical application of targeted long read sequencing in prenatal beta-thalassemia
testing and genetic counselling‌
Hui-Lin
Chin1,2, Miles C Benton3, Lin Yang3, Kok Siong Poon4, Karen ML Tan4, Saumya S Jamuar5,
Roger Foo6, Hai Yang Law7, Denise Li-meng Goh1,2, Samuel S Chong2,4,8, Paola Florez de Sessions3
1
2
3
4
5
6
7
8

P1-06-5‌Divisionof Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat-National University Children’s
Medical Institute, National University Hospital, Singapore‌Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore‌Oxford Nanopore Technologies, Singapore‌Department of Laboratory Medicine, National University Hospital, Singapore‌Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore‌Cardiovascular Research Institute, Yong Loo Lin School of Medicine, National University of Singapore,
Singapore‌DNA Diagnostic and Research Laboratory, KK Women's and Children's Hospital, Singapore‌Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore,
Singapore

A rare variant haemoglobin mimicking Hb Q-Thailand (NG_000006.1: g.37919G>C)‌Norafiza
Mohd Yasin1, Faidatul Syazlin Abdul Hamid1, Yuslina Mat Yusoff1, Ermi Neiza Mohd Sahid1,
Azian Naila Md Noor1, Nor Syazana Jamali2, Ezalia Esa1
1
2

P1-06-6‌Haematology
Department, Cancer Research Center, Institute for Medical Research, National Institutes of Health,
Malaysia‌Hematology Department, Hospital Banting, Klang, Ministry of Health, Malaysia

Knowledge and awareness of thalassemia carrier screening among Thai medical
students‌Pawitchaya
Jariyapongpaiboon1, Boodchiya Rojsuriyawong1, Suwijak Meenapa1,
Pacharapan Surapolchai2, Prapasri Kulalert2,3, Kitiwan Rojnueangnit2
12
3

P1-06-7‌
Medicalstudents, Faculty of Medicine, Thammasat University, Thailand‌Department of Pediatrics, Faculty of Medicine, Thammasat University, Thailand‌Department of Epidemiology, Faculty of Medicine, Thammasat University, Thailand

Identification of novel 2-gene deletion by Multiplex Ligation-dependent Probe
Amplification of the α globin gene cluster‌Naomi Goh, Wendy Low, Alexis Wang, Hai Yang Law
Genetic Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road
Singapore, Singapore

92Poster Session 1-07
Date

Cancer Genomics, Germline 1：Thursday, October 12, 2023

P1-07-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

A case of MEN1 with pulmonary NET diagnosed by cancer multi-gene panel testing ofscalp metastases‌
Yoshihiro
Takahashi1,2,3, Yukio Horikawa1,2,3, Yumi Matsuyama3, Kimiko Asai3, Junki Endo4,
Mayu Sakai1,2, Takehiro Kato1,2, Ken Takao1,2, Masami Mizuno1,2, Takuo Hirota1,2, Daisuke Yabe1,2,5,6,7
1
2
3
4
5
6
7

P1-07-2‌Department
of Diabetes, Endocrinology and Metabolism and Department of Rheumatology and Clinical
Immunology, Gifu University Graduate School of Medicine, Gifu, Japan‌Division of Diabetes, Endocrinology and Metabolism and Division of Rheumatology and Clinical Immunology,
Gifu University Hospital, Gifu, Japan‌Department of Clinical Genetics Center, Gifu University Hospital, Gifu, Japan‌Department of Cardiology and Respiratory Medicine, Gifu University Graduate School of Medicine, Gifu, Japan‌Yutaka Seino Distinguished Center for Diabetes Research, Kansai Electric Power Medical Research Institute,
Kyoto, Japan‌Center for One Medicine Innovative Translational Research, Gifu University, Gifu, Japan‌Center for Research, Education and Development for Healthcare Life Design, Gifu University, Gifu, JapanBARD1 nonsense variant c.334C>T in a patient with recurrent breast cancer
associated with cervical cancer‌
HiroyukiMaeda, Kazumi Ikeda, Masamichi Ikawa, Mizuho Takahashi, Hiroko Kohno,
Yoshiaki Imamura, Yasushi Matsuda, Yasuo Hirono, Goi Takanori
University of Fukui, Japan

P1-07-3

The impact of medical expenses on the decision to undergo confirmatory germline
testing of secondary findings‌
Chiaki
Inagaki1,2,3, Itsuki Oda2, Atsuko Ikegawa2, Hisato Kawakami1, Yuzuki Nakagawa3,
Naoki Shiraishi3, Takayuki Takahama1,3, Kimio Yonesaka1,3, Kazuhiko Nakagawa1,3,
Yoshiaki Nakamura4,5, Takeshi Kuwata6,7, Kazumasa Saigoh2, Kazuo Tamura2,8
1
2
3
4
5
6
7
8

P1-07-4‌Departmentof Medical Oncology, Kindai University Faculty of Medicine, Japan‌Department of Genetic Counseling, Kindai University Hospital, Japan‌Genome Medical Center, Kindai University Hospital, Japan‌Department of Gastroenterology and Gastrointestinal Oncology, National Cancer Center Hospital East, Japan‌Translational Research Support Section, National Cancer Center Hospital East, Japan‌Pathology and Clinical Laboratories, National Cancer Center Hospital East, Japan‌Department of Genetic Medicine and Services, Ational Cancer Center Hospital East, Japan‌Department of Life Science, Faculty of Science and Engineering, Kindai University, Japan

Factors influencing clinical decision-making for risk-reducing Salpingo-oophorectomy
among female BRCA mutation carriers‌
Akiko
Abe, Hidetaka Nomura, Atsushi Fusegi, Mayu Yunokawa, Sanshiro Okamoto,
Terumi Tanigawa, Makiko Omi, Sachiho Netsu, Yoichi Aoki, Motoko Kanno, Satoki Misaka,
Teruyuki Yoshimitsu, Yusuke Butsuhara, Hiroyuki Kanao
The Cancer Institute Hospital of Japanese Foundation for Cancer Research, Japan

P1-07-5

Current status of hereditary breast cancer medical treatment by public medical
insurance at our hospital‌
Fuminori
Aki1, Ippei Kamidi2, Shinzo Ozaki2, Iyo Nakamura2, Takanori Kawamura3,
Tomohiro Okazoe3123‌ Breast Surgery Clinic, Japan
Ito‌Hosogi Hospital Surgery, Japan‌Kouchi Seikyou Hospital Surgery, Japan93

P1-07-6

A retrospective analysis of presumed germline pathogenic variants in thecomprehensive genomic profiling test for cancer‌HarukaMurakami1, Satomi Inoue1, Tatsuo Matsunaga1, Kohei Nakamura2, Hiroshi Nishihara2,
Yasutaka Sukawa3, Yoshitaka Oyamada4, Takayuki Kinoshita5, Kazuki Yamazawa1
1
2
3
4
5

P1-07-7‌Departmentof Medical Genetics, National Hospital Organization Tokyo Medical Center, Japan‌Genomics Unit, Keio Cancer Center, Keio University School of Medicine, Japan‌Department of Clinical Oncology, National Hospital Organization Tokyo Medical Center, Japan‌Department of Respiratory Medicine, National Hospital Organization Tokyo Medical Center, Japan‌Department of Breast Surgery, National Hospital Organization Tokyo Medical Center, JapanThe real-world universal screening for Lynch Syndrome in a public tertiary hospital in
Japan
‌
Yozo
Suzuki, Masakazu Ikenaga, Kiyotaka Hagihara, Yasufumi Sato, Toshiki Noma,
Yoshitomo Yanagimoto, Yasufumi Yamashita, Aki Kobayashi, Junzo Shimizu, Tomono Kawase,
Takashi Iwazawa, Naohiro Tomita, Hiroshi Imamura
Toyonaka Municipal Hospital, Japan

P1-07-8

Clinical management of patients with attenuated familial adenomatous polyposis underlong-term endoscopic surveillance‌
NaoyukiToyota1, Keiko Makishima2, Kyoko Takai2, Takanori Akama2, Masatsugu Ishii3,
Masaru Takemae7, Tomoka Toyota4, Maki Konno5, Jun Konishi5, Kokichi Sugano2,6
1
2
3
4
5
6
7

P1-07-9‌Departmentof Colorectal Surgery, Tochigi Cancer Center, Japan‌Department of Cancer Prevention and Genetic Counseling, Tochigi Cancer Center, Japan‌Department of Hepato-biliary-pancreatic Surgery, Tochigi Cancer Center, Japan‌Department of Breast Surgery, Tochigi Cancer Center, Japan‌Department of Gastroenterology, Tochigi Cancer Center, Japan‌Department of Genetic Medicine, Sasaki Foundation, Kyoundo Hospital, Japan‌Tochigi Cancer Center, Japan

Clinical features of the BRCA1 and BRCA2 pathogenic variant carriers in the
population-based cohort study in Japan‌Yoichi Suzuki1,2, Kinuko Ohneda1, Yohei Hamanaka1,3, Nobuo Fuse1,4, Fuji Nagami1,4,
Hiroshi Kawame1,5, Masayuki Yamamoto1,4
1
2
3
4
5

P1-07-10‌
TohokuUniversity Tohoku Medical Megabank Organization, Japan‌Department of Clinical Genetics, Ageo Central General Hospital, Ageo, Saitama, Japan‌Department of Breast and Endocrine Surgical Oncology, Tohoku University Graduate School of Medicine,
Sendai, Miyagi, Japan‌Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Miyagi,Japan‌Department of Clinical Genetics, Jikei University Hospital, Tokyo, Japan

A study of Li-Fraumeni syndrome that led to diagnosis after tumor-only comprehensive
genomic profiling at our hospital‌ Habano1, Keika Kaneko1, Hiromi Arakawa1, Yuko Minoura1, Asami Kuga1, Naomi Hayashi1,
Eri
Akito Dobashi2, Takahiro Kogawa1, Ippei Fukada1, Seiichi Mori3, Shunji Takahashi1, Arisa Ueki1
1
2
3

‌
The
Cancer Institute Hospital, Japanese Foundation for Cancer Research, Japan‌The Cancer Institute, Japanese Foundation for Cancer Research, Japan‌The Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Japan94

P1-07-11

Returning genomic results to population cohort study participants with pathogenic
variants in hereditary cancer genes‌Kinuko Ohneda1, Yoichi Suzuki1,2, Yohei Hamanaka1,3, Nobuo Fuse1,5, Fuji Nagami1,5,
Tomoko Kobayashi1,6, Hiroshi Kawame1,4, Masanobu Takahashi7, Muneaki Shimada1,5,8,
Masayuki Yamamoto1,5
1
2
3
4
5
6
7
8

P1-07-12‌
TohokuUniversity Tohoku Medical Megabank Organization, Sendai, Miyagi, Japan‌Department of Clinical Genetics, Ageo Central General Hospital, Ageo, Saitama, Japan‌Department of Breast and Endocrine Surgical Oncology, Tohoku University Graduate School of Medicine,
Sendai, Miyagi, Japan‌Department of Clinical Genetics, Jikei University Hospital, Tokyo, Japan‌Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Miyagi,Japan‌Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan‌Department of Clinical Oncology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan‌Department of Gynecology and Obstetrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi,
Japan

Clinical characterization of patients with gBRCA1/2 mutation-positive unresectablepancreatic cancer‌Tomohiro
Kubo1, Joji Muramatsu1, Yohei Arihara1, Ayako Murota2,3, Kazuma Ishikawa1,
Makoto Yoshida1, Hiroyuki Nagashima4, Yuki Ikeda5, Makoto Usami6, Hajime Nakamura1,7,
Daichi Watanabe8, Takanori Shibata9, Kaoru Kasahara10, Akihiro Sakurai2, Kohichi Takada1
1 ‌Sapporo Medical University School of Medicine, Japan2 ‌Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Japan
3 ‌Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Japan4 ‌Department of Gastroenterology, Hokkaido Cancer Center, Japan5 ‌Department of Gastroenterology, Oji General Hospital, Japan6 ‌Department of Medical Oncology, Steel Memorial Muroran Hospital, Japan
7 ‌Department of Gastroenterology, Otaru Ekisaikai Hospital, Japan
8 ‌Department of Gastroenterology, Japanese Red Cross Date Hospital, Japan9 ‌Department of Gastroenterology, Rumoi City Hospital, Rumoi, Japan10 ‌Department of Gastroenterology, Hakodate Goryoukaku Hospital, Japan

P1-07-13

Screening for Lynch syndrome using the MSI test at a regional core hospital in Japan‌Takahiro Yoshioka, Eri Takeda, Kento Kumon, Ryo Inada, Ryo Yoshioka, Kazuyuki Ooishi
Kochi Health Sciences Center, Japan

P1-07-14

A case of triple negative breast cancer after ipsilateral malignant lymphoma of thebreast with BRCA2 pathogenic variant‌Keiko
Miyazato1, Kaname Kurashita1, Kyu-ichiro Miyara2, Rie Tanaka1, Shigemi Murayama2,
Kiyomi Kimura2
12‌UrasoeGeneral Hospital, Japan‌Miyara Clinic, USA

Poster Session 1-08
Date

Cancer Genomics, Somatic 1：Thursday, October 12, 2023

P1-08-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

The management system for BRCA1/2 gene analysis and clinical result in our institute‌Yuichiro
Inagaki, Takeshi Amemiya, Daijuro Hayashi, Takahiro Suzuki, Satoshi Kurokawa,
Junko Arima
Anjo Kosei Hospital, Japan

P1-08-2

Development of a DNA Chip for MLH1 Methylation Detection in Sporadic MSI-High
Tumors‌Takeshi Nagasaka
Kawasaki Medical School Hospital, Japan95

P1-08-3

Comprehensive cancer genomic profiling tests in metastatic castration-resistant
prostate cancer-patient‌
Hideyasu
Tsumura1, Naomi Araki2, Rika Kawata2, Hironao Shirai2, Sachiko Ohori2, Mina Waraya2,
Masao Araki2, Tsutomu Yoshida3, Jiichiro Sasaki3, Masatsugu Iwamura1, Fumio Takada4
12
3
4

P1-08-4‌Kitasato
University School of Medicine, Japan‌Kitasato University Hospital, Japan‌Kitasato University School of Medicine New Century Medical Development Center Cross-sectional Medical Area
Development, Japan‌Kitasato University Graduate School of Medicine, Japan

Clinical applications of comprehensive genomic profiling tests for castration-resistant
prostate cancer‌Mari
Kikuchi1,2, Kouki Ohtsuka2,3, Yu Nakamura2,4, Junji Kitamura4, Jimpei Miyakawa4,
Chiharu Doutsu5,6, Tomohiko Taki2,7, Wataru Ogura1,2, Takatsugu Okegawa4, Junji Shibahara8,
Shuichi Hironaka6,9, Hiroshi Fukuhara4,6, Yaeko Ichikawa2,10, Hiroaki Ohnishi1,2,3
1 ‌Clinical Laboratory Division, Kyorin University Hospital, Japan
2 ‌Center for Genetic Medicine, Kyorin University Hospital, Japan
3 ‌Deparment of Laboratory Medicine, Faculty of Medicine, Kyorin University, Japan4 ‌Department of Urology, Faculty of Medicine, Kyorin University, Japan
5 ‌Nursing Department, Kyorin University Hospital, Japan
6 ‌Cancer Center, Kyorin University Hospital, Japan
7 ‌Department of Medical Technology, Faculty of Health Sciences, Kyorin University, Japan
8 ‌Department of Diagnostic Pathology, Faculty of Medicine, Kyorin University, Japan9 ‌Department of Medical Oncology, Faculty of Medicine, Kyorin University, Japan10 ‌Department of Neurology, Faculty of Medicine, Kyorin University, Japan

P1-08-5

Current status of the Comprehensive Genome Profiling (CGP) tests in urology at our
hospital‌
MizuhoOkawa1, Mio Wakai2, Yuko Tamaki2, Midori Shuhara2, Kota Arakawa5, Shino Hasegawa6,
Shunsuke Hori1, Masoto Uetani1, Nahomi Umemura2, Yuko Hayashi2, Fumito Yamabe1, Yozo Mitsui1,
Hideyuki Kobayashi1, Naobumi Tochigi3, Shinji Ujiie4, Eiyu Nozawa7, Yoshie Murakami2,
Koichi Nagao1, Yukiko Katagiri2, Koichi Nakajima1
1
2
3
4
5
6
7

P1-08-6‌Department
of Urology, Toho University Omori Medical Center, Japan‌Clinical Genetics Unit, Toho University Omori Medical Center, Japan‌Department of Pathology, Toho University Omori Medical Center, Japan‌Department of Clinical laboratory, Toho University Omori Medical Center, Japan‌Clinical Genetics Center, Toho University Sakura Medical Center, Japan‌Genetic Counseling Outpatient, Japanese Red Cross Mito Hospital, Japan‌Department of Urology, Japanese Red Cross Mito Hospital, Japan

Current status and issues of HRD testing and BRCA gene testing in ovarian cancer
cases at our hospital‌
TakashiNagai, Yasuhiro Matsuyama, Mikako Asai, Misaki Nobata, Arina Sato, Hirofumi Akita,
Keita Kuroda, Kei Hattori, Yuko Suzuki, Ayako Osafune, Tomokazu Umezu
Kariya Toyota General Hospital, Japan96

Poster Session 1-09
Date

Pediatric Genetics 1：Thursday, October 12, 2023

P1-09-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Molecular analysis of case with Beckwith-Wiedemann syndrome, placental
mesenchymal dysplasia, and hepatoblastoma‌
Tomoe
Ogawa1,2, Yohei Kosugi3, Toshihiro Matsui4, Yasuto Suzuki5, Ryoji Kobayashi6, Maki Fukami1,
Masatoshi Tateno7, Rika Kosaki8, Masayo Kagami1
1
2
3
4
5
6
7
8

P1-09-2‌Departmentof Molecular Endocrinology, National Research Institute for Child Health and Development, Japan‌Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Japan‌Department of Pediatrics, Kurashiki Central Hospital, Japan‌Children's Cancer Center, National Center for Child Health and Development, Japan‌Department of Pediatrics, Kushiro Red Cross Hospital, Japan‌Department of Pediatrics, Sapporo Hokuyu Hospital, Japan‌Department of Pathology, Kushiro Red Cross Hospital, Japan‌Department of Medical Genetics, National Center for Child Health and Development, Japan

Autosomal dominant diseases ascertained by microarray chromosome analysis; reportof four Japanese patients‌Hidefumi Tonoki1, Tohru Ohta2, Hisato Suzuki3, Mamiko Yamada3, Kenjiro Kosaki3
1
2
3

P1-09-3‌Tenshi
Hospital, Japan‌Health Sciences University of Hokkaido, Japan‌Center for Medical Genetics, Keio University School of Medicine, Japan

Clinical phenotypes of 10 patients with genetical diagnosed as ciliopathy‌Tomoko Uehara, Natsuki Nakamura, Seiji Mizuno, Mie Inaba
Aichi Developmental Disability Center, Japan

P1-09-4

Glial cell line-derived neurotrophic factor and GDNF family receptor alpha-1
expressions effect in patients with Hirschsprung disease‌Setiani Nurhidayah
Genetics Working Group / Translational Research Unit, Faculty of Medicine, Public Health and Nursing, Universitas
Gadjah Mada, Yogyakarta, Indonesia

P1-09-5

CCND2 and PIK3R3 expression effect on liver fibrogenesis in biliary atresia infants‌
Rahaditya
Hanggoro1,2, Kevin Eliezer Ferdinandus2, Fiqih Vidiantoro Halim2,
Laudria Stella Eryvinka2, Kristy Iskandar3, Akhmad Makhmudi2, Gunadi Gunadi2
12
3

P1-09-6‌Genetics
Working Group / Translational Research Unit, Faculty of Medicine, Public Health and Nursing,
Universitas Gadjah Mada, Yogyakarta, Indonesia; Neurology Division, Department of Surgery, Faculty of
Medicine, Public Health and Nursing, Universitas Gadjah Mada / UGM Academic Hospital, Yogyakarta,
Indonesia‌Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas
Gadjah Mada / Dr.Sardjito Hospital, Yogyakarta, Indonesia‌Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada / UGM
Academic Hospital, Yogyakarta, Indonesia

De novo SCN8A variant identified in a patient with infantile epileptic encephalopathy
and congenital nephrotic syndrome‌
Shinsuke
Ninomiya1, Kunihiko Aya4, Satoko Tokumasu4, Mariko Sawada4, Yoshiyuki Hanaoka4,
Hisato Suzuki2,3, Mamiko Yamada2, Toshiki Takenouchi5, Kenjiro Kosaki2
1
2
3
4
5

‌
Departmentof Clinical Genetics, Kurashiki Central Hospital, Japan‌Center for Medical Genetics, Keio University School of Medicine, Japan‌Institute of Medicine, University of Tsukuba, Japan‌Department of Pediatrics, Kurashiki Central Hospital, Japan‌Department of Pediatrics, Keio University School of Medicine, Japan97

P1-09-7

12 patients with ML in our hospital and their risk of respiratory distress after viral
infection‌Yuki Sekido1, Yasuyuki Fukuhara1,2, Tetsumin So2, Rinshu Shimabukuro3, Akihiro Umezawa1,
Motomichi Kosuga2
12
3

P1-09-8‌Centerfor Regenerative Medicine, National Center for Child Health and Development(NCCHD), Japan‌Department of Genetic Medicine, Center for Genetic Medicine, NCCHD, Japan‌Department of General Medicine, Division of Comprehensive Medical Care, NCCHD, Japan

Genome and RNA sequencing reveal structural rearrangements in ATAD3 gene cluster‌Yoshihito
Kishita1, Yukiko Yatsuka2, Tomohiro Ebihara3, Takuya Fushimi3, Yohei Sugiyama2,3,
Atsuko Imai-Okazaki2, Akira Ohtake4, Kei Murayama2,3, Yasushi Okazaki2,5
1
2
3
4
5

P1-09-9‌KindaiUniversity, Japan‌Juntendo University, Japan‌Chiba Children's Hospital, Japan‌Saitama Medical University, Japan‌RIKEN, JapanA splice site pathogenic variant in Dystrophin detected by whole-exome sequencing
modifies clinical manifestation of a male patient with DMD into a milder one: A casereport‌Inna Faradina Putri1, Gunadi1, Kristy Iskandar2, Ery Kus Dwianingsih3, Sunartini2
1
2
3

P1-09-10‌Genetics
Working Group / Translational Research Unit / Pediatric Surgery Division, Department of Surgery,
Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia‌Neurology Division, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas
Gadjah Mada / UGM Academic Hospital, Yogyakarta, Indonesia‌Department of Anatomical Pathology Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada,
Yogyakarta, Indonesia

Intrachromosomal copy number gain adjacent to a terminal loss: Points to consider forinterpreting CNVs
‌Keiko Wakui1,2, Mariko Eguchi3, Naoki Harada412
3
4

P1-09-11‌Departmentof Medical Genetics, Shinshu University School of Medicine, Japan‌Center for Medical Genetics, Shinshu University Hospital, Japan‌Department of Pediatrics, Ehime University Graduate School of Medicine, Japan‌Department of Fundamental Cell Technology, Center for iPS Cell Research and Application, Kyoto University,
Japan

Generation of isogenic models of sex chromosome aneuploid hiPS cells via improved
microcell-mediated chromosome transfer‌Hitomaru
Miyamoto1, Masaya Egawa2, Narumi Uno2, Kyotaro Yamazaki3, Teruhiko Suzuki4,
Shusei Hamamichi1, Kazuma Tomizuka2, Yasuhiro Kazuki1,31
2
34

P1-09-12‌
Tottori
University, Japan‌Tokyo University of Pharmacy and Life Sciences, Japan‌National Institutes of Natural Sciences, Japan‌Tokyo Metropolitan Institute of Medical Science, JapanA deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in apatient with Joubert syndrome‌
TakuyaHiraide1, Kenji Shimizu2, Yoshinori Okumura2, Sachiko Miyamoto1, Mitsuko Nakashima1,
Tsutomu Ogata1,3, Hirotomo Saitsu1
1
2
3

‌
Hamamatsu
University School of Medicine, Japan‌Shizuoka Children's Hospital, Japan‌Hamamatsu Medical Center, Japan98

P1-09-13

A case of congenital hypothyroidism with NKX2-1 and DUOX2 variants‌
Erika
Uehara1, Naoaki Hori2, Kanako Nakao1, Kazuhisa Akiba1,3, Hidefumi Sueoka4,
Keiko Matsubara1,5, Satoshi Narumi1,6
1
2
3
4
5
6

P1-09-14‌
Dept.
of Molecular Endocrinol., National Research Institute for Child Health and Development, Japan‌Ota Memorial Hosp., Japan‌Div. of Endocrinol. and Metab., TMCMC, Japan‌Dept. of Pediatr., Sapporo Medical Univ., Japan‌Div. of Diversity Research, National Research Institute for Child Health and Development, Japan‌Dept. of Pediatr., Keio Univ. Sch. of Med., Japan

Analysis of a single exon deletion that was not easily found in the autosomal recessive
Bardet-Biedl syndrome‌Takuya Naruto1, Yukiko Kuroda2, Yoko Saito2, Yumi Enomoto1, Kenji Kurosawa2
1
2

P1-09-15‌Kanagawa
Children's Medical Center, Japan‌Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, JapanA heterozygous MMP13 mutation in a girl with metaphyseal anadysplasia, showing askeletal phenotype mimicking rickets‌Midori Motokawa
Nagasaki Univ. Sch. of Med., Japan

P1-09-16

A patient with cystic fibrosis revealed by maternal uniparental disomy of chromosomeseven‌
HayateMasubuchi1, Kaori Hara1, Rika Kosaki2, Goro Koinuma3, Kenjiro Kosaki4, Maki Fukami1,
Masayo Kagami1
12
3
4

P1-09-17‌National
Center for Child Health and Development, Japan‌Division of Medical Genetics, National Center for Child Health and Development, Japan‌Division of Pulmonokogy, National Center for Child Health and Development, Japan‌Center for Medical Genetics, Keio Univ. Sch. of Med., Japan

Left main coronary artery ostial atresia in a Noonan-like patient with CBL mutation and
RNF213 polymorphism p.R4810K‌
Ayako
Chida-Nagai1, Hidefumi Tonoki2, Naomasa Makita3, Hiroyuki Ishiyama3, Masafumi Ihara3,
Yuji Maruo1, Takao Tsujioka1, Daisuke Sasaki1, Gaku Izumi1, Hirokuni Yamazawa1, Nobuyasu Kato1,
Masaki Ito1, Miki Fujimura1, Osamu Sasaki2, Atsuhito Takeda1
1
2
3

P1-09-18‌
Hokkaido
University Hospital, Japan‌Tenshi Hospital, Japan‌National Cerebral and Cardiovascular Center, Japan

Pulmonary stenosis in a female with Börjeson-Forssman-Lehmann syndrome‌Yoko Saito, Yukiko Kuroda, Yumi Enomoto, Kenji Kurosawa
Kanagawa Children's Medical Center, Japan

P1-09-19

A distinct genotype and phenotypes in pediatric patients with biventricular
noncompaction‌Keiichi
Hirono1, Yukiko Hata1, Kaori Tsuboi1, Shinya Takarada1, Mako Okabe1, Hideyuki Nakaoka1,
Keijiro Ibuki1, Sayaka Ozawa1, Naoki Nishida1, Fukiko Ichida2
12

P1-09-20‌
Universityof Toyama, Japan‌International University of Health and Welfare, Japan

Two cases of genetic anomalies with major aortopulmonary collateral arteries‌
Ayako
Matsunaga1, Minami Ozawa1, Shotaro Kaku1, Yosuke Osada1, Noriko Udagawa1,
Yusaku Miyamoto1, Ohsuke Migita2, Kentaro Aso1, Keishi Yoshida3, Yoshio Shima3, Fuyuki Miya4,
Mitsuhiro Kato5, Naoki Shimizu1
1
2
3
4
5

‌ Marianna University School of Medicine, JapanSt.
‌Department of Laboratory Medicine, St. Marianna University School of Medicine, Japan‌Department of Neonatology, Nippon Medical School Musashikosugi Hospital, Japan‌Center for Medical Genetics, Keio University, Japan‌Department of Pediatrics, Showa University School of Medicine, Japan99

P1-09-21

16p13.11 microduplication with growth retardation and developmental disorders‌Daisuke Watanabe, Hideaki Yagasaki, Hiromune Narusawa, Takeshi Inukai
Yamanashi University, Japan

P1-09-22

Lessons learned from a case of Dopa-Responsive Dystonia (Segawa Disease) that took
5 years to diagnose‌Hiroko Taniai1,3, Kaname Ishii1, Mihoko Mizuno2
1
2
3

P1-09-23‌
NagoyaCity Chuo Care Center for Disabled Children, Japan‌Daido Hospital, Japan‌Nagoya City Child Welfare Center, Japan

Understanding of the neurological manifestation in pediatric patients with 16p11.2
deletion‌Ji Yoon Han
Department of Pediatrics, Daejeon St. Mary’s Hospital, Korea, College of Medicine, The Catholic University of Korea,
Korea

P1-09-24

Molecular genetics of osteogenesis imperfecta: Data updated from Vietnam nationalchildren's hospital‌
Ngoc
Can, Thao Bui, Khanh Nguyen, Mai Do, Ha Nguyen, Hang Nguyen, Lan Nguyen, Giang Dang,
Son Do, Huyen Dang, Thuong Tran, Dung Vu
Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital,
Vietnam

P1-09-25

A family with brachydactyly type C, GDF5-related -an experience of genetic counseling‌TomoyoYamashita1, Junko Hotta1, Noriko Nakano1, Eri Sakai1, Chie Ono1, Haruka Bamba1,
Kanako Yamashita3, Shiro Ikegawa2, Gen Nishimura2, Takashi Hamazaki1, Toshiyuki Seto1
1
2
3

‌
Osaka
Metropolitan University Graduate School of Medicine, Japan‌Japanese Skeletal Dysplasia Consortium, Japan‌Akashi City Hospital, Japan

Poster Session 1-10
Date

Aging and Diseases：Thursday, October 12, 2023

P1-10-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Knock-in of late-onset Alzheimer’s disease-risk variant SHARPIN G186R lessens NF-κ
B pathway and accelerates Aβ secretion‌Yuya
Asanomi1, Tetsuaki Kimura1, Nobuyoshi Shimoda1, Daichi Shigemizu1,2, Shumpei Niida3,
Kouichi Ozaki1,2
1
2
3

P1-10-2‌
MedicalGenome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan‌RIKEN Center for Integrative Medical Sciences, Yokohama, Japan‌Center for Core Facility Administration, Research Institute, National Center for Geriatrics and Gerontology, Obu,Japan

Vineland-II adaptive behavior profile of adults with genetic disorders and intellectual
disability‌Miho Osako, Satoshi Kobayashi, Kouko Asai, Yu Iijima, Yoko Kanbara, Yoko Mochizuki
Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Japan

P1-10-3Age-dependent metabolic shifts differentiate sarcopenic responses in mice‌Masaki Mori
NCVC Research Institute, Japan100

P1-10-4

A genome wide association study identifies an East Asian-specific risk variant for Lewy
bodies dementia in Japanese‌Risa Mitsumori1, Yuya Asanomi3, Daichi Shigemizu2,3, Sintaro Akiyama3, Takashi Morizono3,
Shumpei Niida4, Kouichi Ozaki2,31
2
34

P1-10-5‌National
Center for Geriatrics and Gerontology (NCGG), Japan‌RIKEN Center for Integrative Medical Sciences, Yokohama, Japan‌Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology (NCGG), Obu, Japan‌Core Facility Administration, Research Institute, NCGG, Obu, Japan

Functional analysis of MFSD3 associated with dementia with Lewy bodies‌
Tetsuaki
Kimura1, Mutsumi Suganuma1, Tohru Hosoyama2, Kayoko Sawamura1,
Nobuyoshi Shimoda1, Noboru Ogiso3, Shumpei Niida3, Kouichi Ozaki1,4, Daichi Shigemizu1,41
2
34P1-10-6‌
MedicalGenome Center, Research Institute, National Center for Geriatrics and Gerontology, Japan‌Geroscience Research Center, Research Institute, National Center for Geriatrics and Gerontology, Japan‌Center for Core Facility Administration, Research Institute, National Center for Geriatrics and Gerontology,
Japan‌RIKEN Center for Integrative Medical Sciences, Japan

Identification of potential blood-based biomarkers for frailty by using an integrative
approach‌
MutsumiSuganuma1, Motoki Furutani2, Tohru Hosoyama3, Shintaro Akiyama1, Risa Mitsumori1,
Rei Otsuka4, Marie Takemura5, Yasumoto Matsui5, Yukiko Nakano2, Shumpei Niida6,
Kouichi Ozaki1,2,7, Shosuke Satake8, Daichi Shigemizu1,7
1
2
3
4
5
6
7
8

P1-10-7‌National
Center for Geriatrics and Gerontology, Japan‌Department of Cardiovascular Medicine, Hiroshima University Graduate School of Biomedical and Health
Sciences, Japan‌Geroscience Research Center, Research Institute, National Center for Geriatrics and Gerontology, Japan‌Center for Gerontology and Social Science, Research Institute, National Center for Geriatrics and Gerontology,
Japan‌Center for Frailty and Locomotive Syndrome, National Center for Geriatrics and Gerontology, Japan‌Core Facility Administration, Research Institute, National Center for Geriatrics and Gerontology, Japan‌RIKEN Center for Integrative Medical Sciences, Japan‌Department of Frailty Research, Center for Gerontology and Social Science, National Center for Geriatrics andGerontology, Japan

Genome-wide association study for non-specific chronic pain in Japanese elderly‌
Daichi
Shigemizu, Yoshihito Sakai, Ken Honjo, Norimitsu Wakao, Hiroki Matsui, Hiroyuki Shimada,
Risa Mitsumori, Kouichi Ozaki, Ken Watanabe
National Center for Geriatrics and Gerontology, Japan

P1-10-8

Potential involvement of a rare variant in a gene encoding a novel ferroptosis-relatedtransporter in osteoarthritis‌Kiyoaki Ishii
National Center for Geriatrics and Gerontology, Japan

Poster Session 1-11
Date

Therapeutics (DNA, mRNA, genome editing, others)：Thursday, October 12, 2023

P1-11-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Study to improve clinical results of ROSI (Round Spermatid Injection) histone
deacetylase inhibitor‌AtsushiTanaka1, Youichi Takemoto1, Motoi Nagayoshi1, Yuya Makino1,2, Daisuke Nakajima1,3,
Seiji Watanabe4
1
2
3
4

‌
Saint
Mother Clinic, Japan‌Juntendo University School of Medicine, Japan‌Occupational and Environmental Health University School of Medicine, Japan‌Hirosaki University Graduate School of Medicine, Japan101

P1-11-2

In vivo glucose lowering effect of MSC derived secretome‌
Dwi
Aris Agung Nugrahaningsih1, Sofia Mubarika1, Pamungkas Bagus Satriyo1, Purwadi Purwadi2,
Is Sarifin2, Indra Bachtiar3, Sunarto Sunarto2, Ubaidillah Ubaidillah2, Ines Larasati2, Dicka Setiasari1,
Jarir At-thobari1
1
2
3

P1-11-3‌Facultyof Medicine, Public Health and Nursing, Universitas Gadjah Mada, Indonesia‌Kepolisian Negara Republik Indonesia, Indonesia‌PT. Tristem Medika Indonesia, Indonesia

Correction of MYH9 R702C by CRISPR/Cas9 system in iPSCs model‌Amornrat
Tangprasittipap1, Pawarit Innachai1, Alisa Tusuwan2, Nongnuch Srirachainan3,
Suradej Hongeng3
1
2
3

P1-11-4‌ResearchCenter, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand‌Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand‌Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Disruption of ZBTB7A/LRF or BCL11A binding site to reactivate fetal hemoglobin in
healthy donor and β0-thalassemia/HbE‌
Chokdee
Wongborisuth1, Amornrat Tangprasittipap1, Pawarit Innachai1, Chonticha Saisawang2,
Natee Jearawiriyapaisarn2, Alisa Tubsuwan3, Suradej Hongeng4, Duantida Songdej4
1
2
3
4

‌
ResearchCenter, Faculty of Medicine, Ramathibodi Hospital, Bangkok, Thailand‌Institute of Molecular Biosciences, Mahidol University, Nakhon-Pathom, Thailand‌Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon-Pathom, Thailand‌Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Bangkok,
Thailand

Poster Session 1-12
Date

Rare Diseases 1：Thursday, October 12, 2023

P1-12-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Detailed analysis of single cell transcriptome using Sturge-Weber syndrome specificon-chip vasculature‌KimihikoBanno1,2, Jered Myslinski3, Junko Yoshida2, Yoshikazu Kameda4, Maneesha Shaji4,Takashi Hato3, Ryuji Yokokawa4, Kyoji Horie2
12
3
4

P1-12-2‌
NaraMedical University, Japan‌Department of Physiology II, Nara Medical University, Japan‌Department of Medicine, Indiana University School of Medicine, USA‌Department of Micro Engineering, Graduate School of Engineering, Kyoto University, Japan

Narrowing down the A/B-DMR methylation maintenance region based on a deletion infamilial Pseudohypoparathyroidism 1A‌Hiromune Narusawa1,2, Yukie Nakagawa2, Sayaka Isobe2, Kyoichiro Tsuchiya2, Hideaki Yagasaki2,
Kazuhiko Nakabayashi1, Maki Fukami1, Masayo Kagami1
1
2

P1-12-3‌National
Center for Child Health and Development, Japan‌University of Yamanashi, Japan

Experience with advance care planning for a patient with connatal PelizaeusMerzbacher disease‌Fumihito Nozaki1, Kei Shiraishi1, Shohei Eto1, Mariko Ishihara1, Atsushi Mori1, Sayoko Haruyama2
1
2

‌
Shiga
Medical Center for Children, Japan‌Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Japan102

P1-12-4

Efficient identification of causative genes of hearing loss by phenotype similarity
analysis‌
Hideki
Mutai1, Fuyuki Miya2, Kiyomitsu Nara1, Reiko Muramatsu1, Satomi Inoue3,
Haruka Murakami3, Shujiro Minami4, Atsuko Nakano5, Yukiko Arimoto5, Noriko Morimoto6,
Taiji Kawasaki7, Koichiro Wasano4,7,8, Hirokazu Sakamoto9,10, Sayaka Katsunuma10,
Sawako Masuda11, Kazuki Yamazawa3, Kenjiro Kosaki2, Tatsuhiko Tsunoda12,13,14,
Tatasuo Matsunaga1,3,4
1 ‌National Institute of Sensory Organs, National Hospital Orfanization Tokyo Medical Center, Japan
2 ‌Center for Medical Genetics, Keio University School of Medicine, Japan
3 ‌Department of Medical Genetics, National Hospital Organization Tokyo Medical Center, Japan4 ‌Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, Japan
5 ‌Otorhinolaryngology, Chiba Children’s Hospital, Japan
6 ‌Otorhinolaryngology, National Center for Child Health and Development, Japan
7 ‌Otolaryngology-Head and Neck Surgery, Red Cross Shizuoka Hospital, Japan
8 ‌Otorhinolaryngology-Head and Neck Surgery, Tokai University School of Medicine, Japan
9 ‌Otorhinolaryngology-Head and Neck Surgery, Osaka Metropolitan University School of Medicine, Japan10 ‌Otorhinolaryngology, Kobe Children’s Hospital, Japan11 ‌Otorhinolaryngology, National Hospital Organization Mie National Hospital, Japan12 ‌Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Japan13 ‌Medical Science Mathematics, Department of Biological Sciences, School of Science, The University of Tokyo,Japan
14 ‌Medical Science Mathematics, Department of Computational Biology and Medical Sciences, Graduate School of
Frontier Sciences, The University of Tokyo, Japan

P1-12-5

Development of isolated nephrogenic diabetes insipidus in a girl with contiguous genedeletion involving AVPR2 and L1CAM‌
Shoma
Saito1, Shigeru Suzuki1, Takuya Kamiyama2, Takahide Kokumai1, Akiko Furuya1,
Genya Taketazu3, Yoshio Makita4, Satoru Takahashi1
12
34

P1-12-6‌Departmentof Pediatrics, Asahikawa Medical University, Japan‌Department of Medicine, Asahikawa Medical University, Japan‌Department of Pediatrics, Asahikawa-Kosei General Hospital, Japan‌Department of Genetic Counseling, Asahikawa Medical University Hospital, Japan

A case report on MELAS/Leigh Syndrome overlap with an MT-ND1 mutation‌Catrina Yang, Ma. Jesusa Rachelle Vicencio, Leniza De Castro-Hamoy, Ignacio Rivera
The Medical City, Philippines

P1-12-7

A case report on RAB27A variants in a patient presenting with hemophagocytic
lymphohistiocytosis‌Catrina Yang, Florentina Uy
The Medical City, Philippines

P1-12-8

Two pediatric cases of primary ciliary dyskinesia caused by OFD1 variants‌
Kazuhiko
Takeuchi1, Tsubasa Matsumoto2, Yuki Tsurinaga3, Yifei Xu1, Taichi Yano1,
Hiroshi Sakaida1, Sawako Masuda4, Koki Ueda1, Guofei Feng1, Shimpei Gotoh5, Satoru Ogawa1,
Makoto Ikejiri1, Kaname Nakatani6, Mizuho Nagao4, Masaki Tanabe1
1
2
3
4
5
6

P1-12-9‌
Mie
University, Japan‌Fukuoka Children’s Hospital, Japan‌Osaka Habikino Medical Center, Japan‌National Hospital Organization Mie National Hospital, Japan‌Kyoto University, Japan‌IGA City General Hospital, Japan

A girl with multiple autoimmune disorders harboring two rare Mendelian autoimmunity
syndromes‌Yu-Ming Chang, Yu-Wen Pan, Meng-Che Tsai, Yen-Yin Chou
National Cheng Kung University Hospital, Taiwan

103P1-12-10

Familial pseudohypoparathyroidism type IB associated with an SVA retrotransposon
insertion in the GNAS locu
‌
MasayoKagami1, Sayaka Kawashima1,2, Akiko Yuno3, Shinichiro Sano1,4, Akie Nakamura1,5,
Keisuke Ishiwata1, Tomoyuki Kawasaki1, Kazuyoshi Hosomichi6, Kazuhiko Nakabayashi1,
Hidenori Akutsu1, Hirotomo Saitsu7, Maki Fukami1, Takeshi Usui8,9, Tsutomu Ogata1,7,10
1 ‌National Research Institute for Child Health and Development, Japan2 ‌Tohoku University Graduate School of Medicine, Japan
3 ‌Kin-ikyo Chuo Hospital, Japan
4 ‌Shizuoka Children’s Hospital, Japan5 ‌Hokkaido University School of Medicine, Japan
6 ‌Kanazawa University, Japan
7 ‌Hamamatsu University School of Medicine, Japan
8 ‌Shizuoka General Hospital, Japan
9 ‌Shizuoka Graduate University of Public Health, Japan10 ‌Hamamatsu Medical Center, Japan

P1-12-11

Craniofacial and dental characteristics of 3 Japanese individuals with geneticallydiagnosed SATB2-associated syndrome‌Hiroshi Kurosaka
Osaka University, Japan

P1-12-12

Family experience of living with children and adults with 1q duplicationsyndrome‌Mikiko Kaneko, Kana Harada, Chisen Takeuchi, Hiroshi Kawame
The Jikei University Hospital, Japan

P1-12-13

Novel TBCK variant and importance of appropriate VUS interpretation‌Chinmayee Bhimarao Nagaraj1, Eileen Broomall1, Lisa Reebals1, Cuixia Tian1,2
12

P1-12-14‌
Cincinnati
Children's Hospital, USA‌University of Cincinnati, USA

Two McCune-Albright Syndrome cases with early onset breast cancer‌
Akiko
Matsutani, Go Yamamoto, Miho Kakuta, Natsuki Naka, Akemi Takahashi, Yumi Ikeda,
Yukiko Osanai, Tomomi Hirata, Katsuya Iuch, Tomokazu Wakatsuki, Kiwamu Akagi
Saitama Cancer Center, Japan

P1-12-15

A case of autosomal dominant junctional epidermolysis bullosa with multiple squamouscell carcinoma‌Mayumi
Komine1, Fuminori Yamamoto2, Fuminori Katsumata2, Mamitaro Ohtsuki2, Ken Natsuga3,
Hideyuki Ujiie3
1
2
3

P1-12-16‌
Departmentof Dermatology, Center for Career Support, Jichi Medical University, Japan‌Department of Dermatology, Jichi Medical University, Japan‌Department of Dermatology, Hokkaido University, JapanTBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis‌KaoriYamoto1, Fumiko Kato1, Masaya Yamoto2, Koji Fukumoto2, Kenji Shimizu2, Hirotomo Saitsu1,
Tsutomu Ogata1
1
2

P1-12-17‌
Hamamatsu
Medical University, Japan‌Shizuoka Children's Hospital, Japan

A case of trisomy 14 mosaicism presenting with multiple congenital anomalies in aneonate‌Maria Gabriela Katigbak, Julianne Racoma, Marcelle Reyes-Tiu
Makati Medical Center, Philippines

P1-12-18

Utilization of chromosomal microarray to elucidate syndromic intellectual disability inIndonesia‌Nydia Sihombing1, Ferdy Kurniawan Cayami1, Nani Maharani1, Agustini Utari1,2, Tri Indah Winarni112‌Centerfor Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Indonesia‌Department of Pediatrics, Faculty of Medicine, Universitas Diponegoro, Indonesia

104P1-12-19

Proposal of genetic diagnosis approach for Prader-Willi syndrome and Kagami-Ogata
syndrome‌Tsutomu Oata1, Shinji Saitoh2, Hidenobu Soejima3, Masayo Kagami412
3
4

P1-12-20‌
Hamamatsu
University School of Medicine, Japan‌Nagoya City University Gradual School of Medical Sciences, Japan‌Saga University School of Medicine, Japan‌National Research Institute for Child Healh and Development, Japan

Biallelic structural variations within FGF12 detected by long-read whole genome
sequencing in epilepsy‌Sachiko
Ohori1,2, Akihiko Miyauchi3, Hitoshi Osaka3, Naohiro Arakaki4,5, Toru Sengoku6,
Kazuhiro Ogata6, Satomi Mitsuhashi7, Martin Frith8,9,10, Rie Seyama1,11, Naomi Tsuchida1,12,
Yuri Uchiyama1,12, Eriko Koshimizu1, Kohei Hamanaka1, Kazuharu Misawa1, Satoko Miyatake1,13,
Takeshi Mizuguchi1, Kuniaki Saito4,5, Atsushi Fujita1, Naomichi Matsumoto1
1
2
3
4

‌
Departmentof Human Genetics, Yokohama City University Graduate School of Medicine, Japan‌Department of Genetics, Kitasato University Hospital, Japan‌Department of Pediatrics, Jichi Medical School, Japan‌Department of Chromosome Science, National Institute of Genetics, Research Organization of Information and
Systems (ROIS), Japan
5 ‌Graduate Institute for Advanced Studies, SOKENDAI, Japan6 ‌Department of Biochemistry, Yokohama City University Graduate School of Medicine, Japan
7 ‌Department of Neurology, St. Marianna University School of Medicine, Japan
8 ‌Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology (AIST),Japan
9 ‌Graduate School of Frontier Sciences, The University of Tokyo, Japan10 ‌Computational Bio Big-Data Open Innovation Laboratory (CBBD-OIL), AIST, Japan11 ‌Department of Obstetrics and Gynecology, Juntendo University, Japan12 ‌Department of Rare Disease Genomics, Yokohama City University Hospital, Japan13 ‌Department of Clinical Genetics, Yokohama City University Hospital, Japan

P1-12-21

Schaaf-Yang syndrome: Insights from a nationwide epidemiological study in Japan‌
KeikoMatsubara1,2, Yutaka Negishi3,4, Kenji Kurosawa5, Kyoko Takano6, Takeshi Nishiyama7,
Shinji Saito4
1
2
3
4
5
6
7

P1-12-22‌National
Research Center for Child Health and Development, Japan‌Div. of Diversity Res., Natl. Res. Inst. for Child Health and Dev., Japan‌Dept. of Pediatr., Gifu Prefectural Tajimi Hosp., Japan‌Dept. of Pediatr. and Neonatol., Nagoya City Univ. Grad. Sch. of Med. Sci., Japan‌Div. of Med. Genet., Kanagawa Children’s Med. Center, Japan‌Center for Medical Genetics, Shinshu University Hospital, Japan‌Dept. of Public Health, Nagoya City Univ. Grad. Sch. of Med. Sci., Japan

Revisiting single nucleotide variants of whole-exome sequencing data involving
aberrant splicing for Mendelian diseases‌Yasuhiro
Utsuno1, Kohei Hamanaka1, Yuri Uchiyama1,2, Naomi Tsuchida1,2, Eriko Koshimizu1,
Atsushi Fujita1, Satoko Miyatake1,3, Kazuharu Misawa1,4, Takeshi Mizuguchi1, Naomichi Matsumoto1
12
3
4

P1-12-23‌
Departmentof Human Genetics, Yokohama City University Graduate School, Japan‌Department of Rare Disease Genomics, Yokohama City University Hospital, Japan‌Department of Clinical Genetics, Yokohama City University Hospital, Japan‌RIKEN Center for Advanced Intelligence Project, JapanThe efficient methods of multiple genetic analyses for rare coagulation deficiencies andrare bleeding disorders‌
Yuri
Uchiyama1,2, Yoshiyuki Ogawa3, Kunio Yanagisawa4, Akira Matsumoto2,3, Hideki Uchiumi3,
Eriko Koshimizu2, Kohei Hamanaka2, Atsushi Fujita2, Kazuharu Misawa2, Satoko Miyatake2,5,
Takeshi Mizuguchi2, Hiroshi Handa3, Naomichi Matsumoto2
1
2
3
4
5

‌
Yokohama
City University Hospital, Japan‌Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan‌Department of Hematology, Gunma University Graduate School of Medicine, Gunma, Japan‌Infection Control and Prevention Center, Gunma University Hospital, Maebashi, Japan‌Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan105

P1-12-24

Pathogenicity of nucleotide deletions at exon-intron borders: Lesson from two cases‌
Yuta
Inoue1, Naomi Tsuchida1,2, Ayumi Yoshimura3, Ayumi Itano3, Tetsuya Kibe3, Chan Mei Yan4,
Keng Wee Teik4, Yuri Uchiyama1,2, Kohei Hamanaka1, Eriko Koshimizu1, Atsushi Fujita1,
Kazuharu Misawa1, Satoko Miyatake1,5, Takeshi Mizuguchi1, Naomichi Matsumoto1
1
2
3
4
5

P1-12-25‌Departmentof Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan‌Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan‌Department of Pediatrics, Seirei-Mikatahara General Hospital, Shizuoka, Japan‌Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia‌Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan

On-line group clinics for children with genetic syndromes: A 2022 report at Saitama
Children’s Medical Center‌
Yuki
Sawada1, Miwako Kizumi1, Miwa Kobayashi1, Kenta Hasumi1,2, Miyu Fukushima1,2,
Sayuri Oda1,2, Mariko Sagara1,2, Daiju Oba1, Hirofumi Ohashi1
1
2

P1-12-26‌Departmentof Genetics, Saitama Children’s Medical Center, Japan‌Department of Clinical Laboratory, Saitama Children’s Medical Center, Japan

Challenges in secondary findings disclosure in facilities offering comprehensive genetic
testing for rare diseases‌
Kana
Hiromoto1,8, Takahiro Yamada2,8, Mio Tsuchiya3,8, Hiroshi Kawame4,5,8, Eiji Nanba6,8,
Yuichi Goto7,8, Shinji Kosugi2,8
1
2
3
4
5
6
7
8

P1-12-27‌
Hyogo
Prefectural Kobe Children's Hospital, Japan‌Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Japan‌Amicus Therapeutics K.K., Japan‌Tohoku University Tohoku Medical Megabank Organization, Japan‌Department of Clinical Genetics, Jikei University, Japan‌Organization for Research Initiative and Promotion, Tottori University, Japan‌Medical Genome Center, National Center of Neurology and Psychiatry, Japan‌Research Project on Ethical, Legal, and Social Issues Supported by the Health, Labour and Welfare Sciences
Research Grants “Extraction of ethical and social issues and improvement of social environment toward therealization of a society where people can benefit from genome medicine without anxiety”

Non-SGA girl with chromosome 6q24-related diabetes mellitus‌
Shinji
Higuchi1,2, Kohei Iwata1, Yoh Watanabe1, Yuki Yamada1, Jun Mori1, Hiroaki Nakamura1,2,
Tohru Yorifuji1
1
2‌Divisionof Pediatric Endocrinology and Metabolism, Osaka City General Hospital, Japan‌Department of Genetic Medicine, Osaka City General Hospital, Japan

Poster Session 1-13
Date

COVID-19 Susceptibility：Thursday, October 12, 2023

P1-13-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Clustering analysis reveals variable genetic association patterns in COVID-19 clinicalsubgroups‌
Nikolaos
Avramidis1,2, Nicola Pirastu3, Sohan Seth4, Erola-Pairo Castineira1, Konrad Rawlik1,
Kenneth Baillie1,2,5,6
1
2
3
4
5
6

‌
Pandemic
Science Hub, Centre for Inflammation Research and Roslin Institute, University of Edinburgh,
Edinburgh, United Kingdom‌Roslin Institute, The University of Edinburgh, Edinburgh, United Kingdom‌Human Technopole, Milan, Italy‌Institute for Adaptive and Neural Computation, School of Informatics, The University of Edinburgh, Edinburgh,
United Kingdom‌MRC Human Genetics Unit, Institute of Genetics, Edinburgh, United Kingdom‌Intensive Care Unit, Royal Infirmary of Edinburgh, Edinburgh, United Kingdom106P1-13-2

Comparison of COVID-19 patients’ outcomes between Omicron and Delta variants
infection‌
Laudria
Stella Eryvinka1, Mohamad Saifudin Hakim2, Hendra Wibawa3, Khanza Adzkia Vujira1,
Dyah Ayu Puspitarani1, Fadila Dyah Trie Utami1, Marcellus Marcellus1, Gunadi Gunadi1
12
3

P1-13-3‌
Pediatric
Surgery Division, Department of Surgery / Genetics Working Group / Translational Research Unit,
Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia‌Department of Microbiology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada,
Yogyakarta, Indonesia‌Disease Investigation Center Wates (Balai Besar Veteriner Wates), Yogyakarta, Directorate General, andLivestock Services, Ministry of Agriculture Indonesia

Influence of germline variants of IGHV3-53 and IGHV3-66 genes on antibody
responses to BNT162b2 mRNA COVID-19 vaccine‌Yoichi
Mashimo1, Keiko Yamazaki1, Takahiro Kageyama2, Shigeru Tanaka2, Toshibumi Taniguchi3,4,Kazuyuki Matsushita5, Hidetoshi Igari3,4, Hideki Hanaoka6, Koutaro Yokote7, Hiroshi Nakajima2,4,
Yoshihiro Onouchi1
1
2
3
4
5
6
7

P1-13-4‌Departmentof Public Health, Chiba University Graduate School of Medicine, Japan‌Department of Allergy and Clinical Immunology, Chiba University Graduate School of Medicine, Japan‌Department of Infectious Diseases, Chiba University Hospital, Japan‌Chiba University Hospital COVID-19 Vaccine Center, Japan‌Division of Laboratory Medicine, Chiba University Hospital, Japan‌Clinical Research Center, Chiba University Hospital, Japan‌Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine,Japan

Severe clinical manifestations in an extremely low birth weight preterm baby with
vascular Ehlers-Danlos syndrome‌Shujiro Hayashi
Dokkyo Medical University, Japan

Poster Session 1-14
Date

Genetic Counseling in Asia 1：Thursday, October 12, 2023

P1-14-1

17:30 ～ 18:00

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

The road to recognition: Current genetic counseling practice in Indonesia‌Ziske Maritska1,2, Sultana MH Faradz2,3
1
2
3

P1-14-2‌Departmentof Biology Medicine, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia‌Indonesian Society of Genetic Counselors (ISGC), Indonesia‌Diponegoro National Hospital, Semarang, Indonesia

Quick survey on awareness of genetic counselor profession among the first year
medical students in Palembang, Indonesia‌Ziske Maritska
Universitas Sriwijaya, Indonesia

P1-14-3

Withdrawn

P1-14-4

A case of severe fetal ARPKD with oligohydramnios in the second trimester ofpregnancy, treated with genetic counseling‌
ChikaraKihira, Kouichiro Kido, Yumi Suzuki, Kakushou Takahashi,
Daejoon Yoon, Tsuyoshi Terashima, Keita Yatsuki, Miki Nishizawa, Hideo Kamata, Haruko Hiraike,
Yukifumi Sasamori, Ryo Eiji, Kazunori Nagasaka
Teikyo University, Japan107

P1-14-5

Development of the professional standards and the pathway to certification of genetic
counsellors in Malaysia‌Sook-Yee
Yoon1, Suzanah Abd Hamid2, Yee Ling Cheah9, Gaik Siew Ch’ng3, Tiara Hassan4,
Wee Teik Keng5, Juliana Mei Har Lee6, Huey Yin Leong5, Lip Hen Moey5, Rifhan Azwani Mazlan7,
Winnie Pei Tee Ong5, Sharifah Azween Syed Omar8, Meow Keong Thong7, Shing Yiing Tiong9
1
2
3
4
5
6
7
8
9

P1-14-6‌Genetic
Counselling Society Malaysia, Malaysia‌Sabah Women and Children Hospital, Malaysia‌Department of Genetics, Penang Hospital, Malaysia‌Genetic Counselling Unit, Cancer Research Malaysia, Malaysia‌Department of Genetics, Hospital Kuala Lumpur, Malaysia‌Genetic Counselling Asia, Malaysia‌Genetics Medicine Unit, University Malaya Medical Centre, Malaysia‌Department of Paediatrics, Hospital Canselor Tuanku Muhriz, Malaysia‌Loh Guan Lye Specialists Centre, Malaysia

Enhancing genetic counseling in Thailand: Challenges, global lessons, andcollaborative strategies‌Naravut Suvannang
The Secret Lab, Thailand

P1-14-7

Genetic counseling and CGP testing for the patient with advanced gastric cancer andpre-existing FAP: A case report‌Mizuki
Takatsu1, Junko Kimura1, Mika Tsukahara1, Mitsutoshi Nomura1, Hisashi Shimojo1,2,Masato Nakamura1,3, Hideaki Moteki1
1
2
3

P1-14-8‌
AizawaHospital, Japan‌Department of Pathology, Aizawa Hospital, Japan‌Aizawa Comprehensive Cancer Center, Aizawa Hospital, Japan

Identifying patient factors related to genetic counseling visits for von Hippel-Lindau
syndrome‌Masako Torishima1, Akiko Yoshida1, Akira Inaba2, Shinji Kosugi1
1
2

P1-14-9‌
Kyoto
University School of Public Health, Japan‌Clinical Genetics Unit, Kyoto University Hospital, Japan

A novel compound hetero mutation of PDZD7 associated with moderate non-syndromic
hearing loss in a Japanese family‌Yumiko Kobayashi1, Kayono Yamamoto1, Akimune Fukushima1, Shin-ya Nishio2, Shin-ichi Usami2
1
2

‌
Iwate
Medical University, Japan‌Shinshu University, Japan

Poster Session 2-01
Date

Complex Diseases and Genomic Risk Assessment 2：Friday, October 13, 2023

P2-01-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Genome-wide association studies identify a susceptibility locus to pelvic organ
prolapse in the Japanese‌
MinakoImamura1,2, Masatoshi Matsunami1, Asuka Ashikari3, Xiaoxi Liu4, Rikako Nakamoto1,
Masahiko Isa1, Azeem Javed1, Masahiro Yoshida1, Noriko Ohyama1, Naoko Miyagawa4,
Kohei Tomizuka4, Keiko Hikino5, The Biobank Japan Project6, Koichi Matsuda7, Chikashi Terao4,
Minoru Miyazato8, Shiro Maeda1,2
1
2
3
4
5
6
7
8

‌
Departmentof Advanced Genomic and Laboratory Medicine, Graduate School of Medicine, University of the
Ryukyus, Japan‌Division of Clinical Laboratory and Blood Transfusion, University of the Ryukyus Hospital, Japan‌Department of Urology, Graduate School of Medicine, University of the Ryukyus, Japan‌Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Japan‌Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Japan‌Institute of Medical Science, The University of Tokyo, Japan‌Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The
University of Tokyo, Japan‌Department of Systems Biology, Graduate School of Medicine, University of the Ryukyus, Japan

108

P2-01-2

An evaluation of polygenic risk score for atrial fibrillation in a working-age cohort‌Koki
Tanaka1, Naoki Itokawa1, Tomoko Takahashi2, Masaru Koido1, Naoki Asanoma3,
Nagisa Shiomi4, Akinori Fujino4, Yoichiro Kamatani1, Michiko Seyama5, Toru Suzuki2,
Yoshinori Murakami2,6
1
2
3
4
5
6

P2-01-3‌Laboratoryof Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate
School of Frontier Sciences, The University of Tokyo, Japan‌Project Division of Genomic Medicine and Disease Prevention, The Institute of Medical Science, The Universityof Tokyo, Japan‌NTT Smart Data Science Center and NTT Computer and Data Science Laboratories, Nippon Telegraph andTelephone Corporation, Japan‌Bio-Medical Informatics Research Center and NTT Basic Research Laboratories, Nippon Telegraph andTelephone Corporation, Japan‌Medical Business Planning Office, Nippon Telegraph and Telephone Corporation, Japan‌Division of Molecular Pathology, The Institute of Medical Science, The University of Tokyo, Japan

Genome-wide association studies by anti-hypertensive drug classes reveal complex
pathogenesis of resistant hypertension‌
Keiko
Yamazaki1, Chikashi Terao3, Atsushi Takahashi4, Yoichiro Kamatani5, Koichi Matsuda5,
Yasuo Takahashi2
1
2
3
4
5

P2-01-4‌
Chiba
University, Japan‌Nihon University School of Medicine, Japan‌RIKEN Center for Integrative Medical Sciences, Japan‌National Cerebral and Cardiovascular Center, Japan‌The University of Tokyo, Japan

Genome-wide association study of narcolepsy type 1 in multiple populations‌
Taku
Miyagawa1,2, Hanna Ollila3, Hiromi Toyoda2, Seik-Soon Khor2,4, Mihoko Shimada1,2,4,
Emmanuel Mignot3, Katsushi Tokunaga2,41
2
34P2-01-5‌Tokyo
Metropolitan Institute of Medical Science, Japan‌The University of Tokyo, Japan‌Stanford University, USA‌National Center for Global Health and Medicine, Japan

Exome sequencing reveals rare genetic variants associated with the risk of paroxysmal
atrial fibrillation‌
Kanji
Tabata1,2, Takeaki Sudo3, Yuki Nagata1,4, Takamasa Ichikawa1,4, Kensuke Ihara5, Ken Asada13,
Yasuaki Tanaka6, Yasuteru Yamauchi7, Takeshi Sasaki8, Hitoshi Hachiya9, Yasushi Imai10,
Hideo Fujita11, Tetsuo Sasano12, Tetsushi Furukawa5, Takanori Iwata2, Toshihiro Tanaka1,41‌
Departmentof Human Genetics and Disease Diversity,Tokyo Medical and Dental University (TMDU), Tokyo,Japan
2 ‌Department of Periodontology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan
3 ‌Institute of Education, Tokyo Medical and Dental University(TMDU), Tokyo, Japan
4 ‌Bioresource Research Center, Tokyo Medical and Dental University(TMDU), Tokyo, Japan5 ‌Department of Cardiovascular Medicine, Tokyo Medical and Dental University (TMDU), Tokyo, Japan6 ‌Department of Cardiology, Yokosuka Kyosai Hospital, Yokosuka, Japan
7 ‌Department of Cardiology, Yokohama City Minato Red Cross Hospital, Yokohama, Japan
8 ‌Department of Cardiology, National Hospital Organization Disaster Medical Center, Tokyo, Japan
9 ‌Cardiology Division, Cardiovascular Center, Tsuchiura Kyodo Hospital, Ibaraki, Japan10 ‌Division of Clinical Pharmacology, Department of Pharmacology, Jichi Medical University, Tochigi, Japan11 ‌Division of Cardiovascular Medicine, Saitama Medical Center, Jichi Medical University, Saitama, Japan12 ‌Department of Cardiovascular Physiology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan13 ‌Cancer Translational Research Team, RIKEN Center for Advanced Intelligence Project and an External Research
Staff of Medical AI Research and Development, National Cancer Center Research Institute, Japan

P2-01-6

Association analysis of HLA-B and KIR genes in ankylosing spondylitis‌
Aya
Kawasaki1, Ikue Ito-Naito1,2, Kurisu Tada3, Makio Kusaoi3, Keita Yamashita1,4,
Kumiko Shimoyama5, Hajime Kono6, Noriyoshi Ogawa5, Naoto Tamura3, Naoyuki Tsuchiya1
1
2
3
4
5
6

‌
Universityof Tsukuba, Japan‌H.U. Group Research Institute, Japan‌Department of Internal Medicine and Rheumatology, Juntendo University Faculty of Medicine, Japan‌Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan‌Division of Immunology and Rheumatology, Department of Internal Medicine 3, Hamamatsu University Schoolof Medicine, Japan‌Department of Internal Medicine, Teikyo University School of Medicine, Japan

109

P2-01-7

Withdrawn

P2-01-8

Acceleration of tau aggregation by synergistic effect of CD40 and CD48 gene in
Alzheimer’s disease‌Sung-Hyun Kim1, Sumin Yang1, Key-Hwan Lim2, Jae-Yeol Joo1
1
2

P2-01-9‌Collegeof Pharmacy, Hanyang University, Korea‌College of Pharmacy, Chungbuk National University, Korea

Development of bias correction methods for cord blood-based epigenome-wide
association study‌
HidekiOhmomo1,2,3, Akira Takashima2, Shiori Minabe2,3, Yoichi Sutoh2,3, Kanako Ono2, So Umekage2,
Shohei Komaki2,3, Yayoi Otsuka-Yamasaki2,3, Tsuyoshi Hachiya2,3, Rie Oyama4, Tsukasa Baba4,
Makoto Sasaki2,5, Atsushi Shimizu2,3
1
2
3
4
5

P2-01-10‌
Iwate
Medical University, Japan‌Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Japan‌Division of Biomedical Information Analysis, Institute for Biomedical Sciences, Iwate Medical University, Japan‌Department of Obstetrics and Gynecology, Iwate Medical University School of Medicine, Japan‌Division of Ultrahigh Field MRI, Institute for Biomedical Sciences, Iwate Medical University, Japan

Investigating the association of FOXE1 variant in the etiology of non-syndromic
orofacial clefts in a Kuwaiti cohort‌Amani AL-Adsani, Nada Abdelhafez, Lateefa Al-Kharafi, Suzanne Al-Bustan
Kuwait University, Kuwait

P2-01-11

Establishment of an immune evaluation system using omics analysis data‌Akari Suzuki, Matteo Guerrini, Kazuyoshi Ishigaki, Hiroaki Hatano, Kazuhiko Yamamoto
RIKEN, Japan

P2-01-12

Development of a cross-ethnic polygenic risk scoring method: Taking the Taiwan
Biobank and the UK Biobank as examples‌Ai-Ru Hsieh, Pin-Hsuan Chiang
Department of Statistics, Tamkang University, Taiwan

P2-01-13

A middle-aged woman with 45, X/46, XX/47, XXX mosaicism: A case report‌KeikoGoto-Hirano1, Yuri Kitamura1,2, Yoshiteru Arai2, Ito Kawakami3, Masaki Nishioka3,
Masami Arai1
12
3

P2-01-14‌Departmentof Clinical Genetics, Juntendo University, Japan‌Department of Pediatrics and Adolescent Medicine, Juntendo University, Japan‌Department of Psychiatry & Behavioral Science, Juntendo University, Japan

Detection of copy number variation using digital PCR‌
Akane
Inomoto, Junichi Hosokawa, Keisuke Miyako, Rina Kaneko, Tomomi Tajino, Sakae Itoga,
Osamu Ohara
Kazusa DNA Research Institute, Japan

P2-01-15

Application of genetic testing in heritable connective tissue disorders to disease
management‌
Hirokuni
Yamazawa, Takahiro Yamada, Ayako Chida-Nagai, Itsumi Sato, Atsuhito Takeda,
Yuka Shibata-Ishizaka, Yuna Sasaki, Mio Mukainakano
Hokkaido University Hospital, Japan110

Poster Session 2-02
Date

Inherited Metabolic Diseases and Newborn Screening 2：Friday, October 13, 2023

P2-02-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Newborn screening for acid sphingomyelinase deficiency in Taiwan‌An-Ju Lee, Kuan-Chi Tseng, Chao-Chuan Liao, Pin-Wen Chen, Yin-Hsiu Chien, Wuh-Liang Hwu
Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan

P2-02-2

Identification of a novel homozygous NAXE variant in 6 native Sabahan Malaysian
children: A founder mutation?
‌WinniePeitee Ong1, Hock Sin Heng2, Jun Xiong Lee2, Elyssa Milus Majawit2, Mei Yan Chan1,
Nor Azimah Abdul Azize3, Yusnita Yakob3, Eugene Lee4, Rin Khang4, Go Hun Seo4, Lock-Hock Ngu1
12
34

P2-02-3‌Departmentof Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia‌Paediatric Department, Sabah Women and Children Hospital, Sabah, Malaysia‌Unit of Molecular Diagnostics, Institute for Medical Research, National Institute of Health, Kuala Lumpur,
Malaysia‌Division of Medical Genetics, 3billion Inc., Seoul, South Korea

Novel 28 bp deletion variant of the ATP7B gene, c.4022-24_4025del, in a large Thaifamily with Wilson disease‌Dhipsukon
Pongborriboon1, Nattaphon Wansom2, Noppadol Kietsiriroje1, Chanin Limwongse3,
Oradawan Plong-On4, Areerat Hnoonual4,5, Pornprot Limprasert4,5
1
2
3
4
5

P2-02-4‌Department
of Internal Medicine, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand‌Department Internal Medicine, Yantakao Hospital, Trang, Thailand‌Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand‌Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand‌Genomic Medicine Center, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand

Lysine metabolites as biomarkers for disorders of mitochondrial iron-sulfur clusters
assembly‌
ParithWongkittichote, Cassandra Pantano, Matthew Demczko, Amy Goldstein, Xinying Hong,
Miao He, Rebecca GanetzkyChildren's Hospital of Philadelphia, USA

P2-02-5

Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease‌KatsuyaNakamura1,2, Saki Mukai3, Yuka Takezawa3, Yuika Natori3, Akari Miyazaki3, Yuichiro Ide3,
Mayu Takebuchi3, Kana Nanato3, Mizuki Katoh3, Harue Suzuki3, Akiko Sakyu1, Tomomi Kojima1,
Emiko Kise1, Hiroaki Hanafusa1, Tomoki Kosho1,4, Koichiro Kuwahara5, Yoshiki Sekijima2
1
2
3
4
5

P2-02-6‌Centerfor Medical Genetics, Shinshu University Hospital, Japan‌Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan‌Department of Laboratory Medicine, Shinshu University Hospital, Japan‌Department of Medical Genetics, Shinshu University School of Medicine, Japan‌Department of Cardiovascular Medicine, Shinshu University School of Medicine, Japan

Comprehensive functional annotation of VUS in Japanese pediatric mitochondrial
diseases‌
Ayumu
Sugiura1, Yoshihito Kishita2, Takanori Onuki3, Tomohiro Ebihara4, Tetsuro Matsuhashi3,
Masaru Shimura3, Takuya Fushimi3, Noriko Ichino1, Yukiko Yatsuka1, Atsuko Imai-Okazaki1,
Kokoro Ozaki5, Yuma Yamada6, Hideyoshi Harashima6, Akira Ohtake7,8, Kei Murayama1,3,9,Yasushi Okazaki1,5
1
2
3
4
5
6
7
8
9

‌
Diagnostics
and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University,Japan‌Department of Life Science, Faculty of Science and Engineering, Kindai University, Japan‌Department of Metabolism, Chiba Children's Hospital, Japan‌Department of Neonatology, Chiba Children's Hospital, Japan‌Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Japan‌Laboratory for Molecular Design of Pharmaceutics, Faculty of Pharmaceutical Sciences, Hokkaido University,Japan‌Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Japan‌Center for Intractable Diseases, Saitama Medical University Hospital, Japan‌Center for Medical Genetics, Chiba Children's Hospital, Japan

111

P2-02-7

Investigating common mutations and prevalence of Wilson’s disease in Thai population
using whole-genome population data‌ParaveeOwn-eium1, Donniphat Dejsuphong1, Prin Vathesatogkit2, Thanyachai Sura3,
Bhoom Suktitipat4, Jakris Eu-ahsunthornwattana5
1
2
3
4
5

‌
Programin Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok,
Thailand‌Division of Cardiology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University,
Bangkok, Thailand‌Division of Medical Genetics, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol
University, Bangkok, Thailand‌Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand‌Department of Community Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok,
Thailand

Poster Session 2-03
Date

Prenatal Genetics 2：Friday, October 13, 2023

P2-03-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Current status of NIPT initiated at our hospital and results of questionnaire‌Shiori Tsuge, Sanae Shinone, Satoshi Matsukawa, Hiromi Nakamura
Gifu Prefectural Tajimi Hospital, Japan

P2-03-2

Three pregnant patients with Osteogenesis imperfecta‌Yuya Tanaka1, Yoshifumi Kasuga1, Takeshi Arimitsu2, Takeshi Sato2, Takane Kinn2, Satsuki Nakano2,
Moe Kusakawa3, Mamiko Yamada4, Keisuke Akita1, Kunio Tanaka1, Yuka Fukuma1, Junko Tamai1,
Keita Hasegawa1, Toshimitsu Otani1, Satoru Ikenoue1, Mariko Hida2, Gen Nishimura5,
Tomonobu Hasegawa2, Mamoru Tanaka1
1
2
3
4
5

P2-03-3‌Departmentof Obstetrics and Gynecology, Keio University School of Medicine, Japan‌Department of Pediatric, Keio University School of Medicine, Japan‌Department of Pediatric, Saitama City Hospital, Japan‌Center for Medical Genetics, Keio University School of Medicine, Japan‌Department of Radiology, Hospital Musashino Youwa Hospital, Japan

A case report of trisomy 16 only in the placenta with small omphalocele‌Momoko Kato, Nobuhiko Hayashi
The Fetal Clinic Tokyo Bay Makuhari, Japan

P2-03-4

A case with a small supernumerary marker chromosome where CVS andultrasonography revealed different sexes‌HarunaOkubo1, Yuki Ito1, Kana Harada2, Mikiko Kaneko2, Yuto Tsuruoka1, Takeshi Nagao1,
Akihiro Hasegawa1, Michihiro Yamamura1, Momoko Inoue1, Ken Takahashi1, Michiko Miya1,
Hiroshi Kawame2, Osamu Samura1, Aikou Okamoto1
1
2

P2-03-5‌The
Jikei University School of Medicine, Department of Obstetrics and Gynecology, Japan‌The Jikei University Hospital, Department of Clinical Genetics, Japan

Changes in awareness of prenatal testing after implementation of the NIPT certification
system‌
TakeshiNakamura1, Nahoko Shirato1, Tatsuko Hirose1,2, Shin Ikebukuro1, Keiko Miyagami1,
Takahiro Yamada3, Akihiko Sekizawa1
1
2
3

‌
Showa
University School of Medicine, Japan‌Showa University Graduate School of Health Sciences, Japan‌Hokkaido University Hospital Clinical Genetics, Japan

112

P2-03-6

Is chromosome testing using amniocentesis essential to confirm the diagnosis in NIPTpositive cases?
‌YasushiNakamura1, Chieko Tamura1, Kenji Yamada1, Chikoto Ihara1, Seiji Kanazawa1,
Chikara Kihira2, Mihyon Song31
2
3

P2-03-7‌
FMC
Tokyo Clinic, Japan‌Department of Obstetrics & Gynecology, Teikyo University School of Medicine, Japan‌Marunouchi-no-mori Ladies' Clinic, JapanSix cases with the indeterminate results in NIPT at Hiroshima Red Cross Hospital &Atomic-bomb Survivors Hospital‌
Miho
Kodama, Norio Miharu, Itsuka Kai, Takayo Shoji, Minako Hikita, Rikako Nakamae,
Kenjiro Date
Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Japan

P2-03-8

Non-Invasive prenatal testing for hotspot mutations in Chinese population by
droplet digital PCR‌Kai Yan, Yeqing Qian, Bei Liu, Na Chen, Xiaoyang Gao, Minyue Dong
Department of Reproductive and Genetics, Women's Hospital, School of Medicine, Zhejiang University, China

P2-03-9

Mutation-free baby born from a Vici Syndrome carrier after preimplantation genetic
testing (PGT)‌Yuki Mizuguchi1,2, Kou Sueoka1, Suguru Sato1, Mamoru Tanaka1
1
2

P2-03-10‌
Keio
University School of Medicine, Japan‌Nasu Red Cross Hospital, Japan

A case of fetal thanatophoric dysplasia type 1 diagnosed with fetal ultrasound andgenetic test‌Yoshiki
Maeda1, Asumi Ohmori2, Ryo Suzuki2, Miho Izawa2, Ryoko Ono2, Masahiro Nakao2,3,
Hiroko Morisaki2, Chinami Horiuchi2
1
2
3

P2-03-11‌
KuwanaCity Medical Center, Sakakibara Heart Institute, Japan‌Sakakibara Heart Institute, Japan‌Auckland University, New Zealand

Chromosomal analysis of parental chromosomal aberrations with recurrent pregnancy
loss – single institution analysis‌
Ikuno
Kawabata1, Tomoko Sahara1, Sayuri Hiraoka1, Tomoko Ichikawa1, Shunji Suzuki1,
Hidehiko Miyake2, Takeshi Yamada1
1
2

P2-03-12‌NipponMedical School Hospital, Japan‌Department of Genetic Counseling, Graduate School of Humanities and Science, Ochanomizu University, Japan

Detection of embryos with balanced reciprocal translocation using breakpoint-specificpolymerase chain reaction‌Gen
Furukawa1,2, Rie Kawamura3, Hidehito Inagaki3, Yoshihiko Sakakibara4, Yoshimasa Asada4,
Tetsuaki Hara5, Takeshi Iwasa6, Akira Kuwahara6, Minoru Irahara6, Hiroki Kurahashi3
1
2
3
4
5
6

P2-03-13‌
FujitaHealth University, Japan‌Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan‌Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Toyoake, Aichi, Japan‌Asada Ladies Clinic, Nagoya, Aichi, Japan‌Division of Reproductive Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan‌Department of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Tokushima University,
Tokushima, Japan

PGT-SR using aCGH and FISH analysis for detecting unbalanced chromosome
segments involving less than 5Mb: A Case Report‌Keiichi
Kato1, Nami Kawasaki1, Hiroko Hayashi1, Kazuki Ohata1, Tetsuya Miki1, Akemi Usami1,
Toshiyuki Yamamoto2, Tomoko Kuroda1
1
2

‌
Kato
Ladies Clinic, Japan‌Institute of Clinical Genetics, Tokyo Women's Medical University Hospital, Japan

113

P2-03-14

Three cases of embryos diagnosed with PGT-A abnormality that resulted in live births‌Maki Kusumi, Chisa Tabata, Osamu Tsutsumi
Sanno Hospital, Center for Human Reproduction and Gynecologic Endoscopic Surgery, Japan

P2-03-15

Psycho-social and genetic counseling issues in reproductive genetic counselling in
Malaysia from 2018 to 2022
‌Juliana Lee1,2,3,4
1
2
34

P2-03-16‌Genetic
Counselling Asia, Malaysia‌Genetic Counselling Society of Malaysia, Malaysia‌National University of Malaysia, Malaysia‌Professional Society of Genetic Counselors in Asia, Singapore

Utility of haplophasing by nanopore sequencing in preclinical setup for PGT-M‌ Shichiri1, Yuri Murase2, Hidehito Inagaki1, Ikumi Moriyama3, Haruki Nishizawa4, Eiji Sugihara5,
Yui
Hiroki Kurahashi1
1
2
3
4
5

‌
Divisionof Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi,Japan‌OVUS Inc., Aichi, Japan‌Department of Clinical Genetics, Fujita Health University School of Medicine, Aichi, Japan‌Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Aichi, Japan‌Open Facility Center, Research Promotion Headquarters, Fujita Health University, Aichi, Japan

Poster Session 2-04
Date

Neurology 2：Friday, October 13, 2023

P2-04-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 familywith anticipation‌
TakeshiMizuguchi1, Tomoko Toyota2, Eriko Koshimizu1, Shinichi Kameyama1, Hiromi Fukuda1,3,
Naomi Tsuchida1,4, Yuri Uchiyama1,4, Kohei Hamanaka1, Atsushi Fujita1, Kazuharu Misawa1,
Satoko Miyatake1,5, Hiroaki Adachi2, Naomichi Matsumoto1
1
2
3
4
5

P2-04-2‌Departmentof Human Genetics, Yokohama City University Graduate School of Medicine, Japan‌Department of Neurology, University of Occupational and Environmental Health School of Medicine, Japan‌Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan‌Department of Rare Disease Genomics, Yokohama City University Hospital, Japan‌Department of Clinical Genetics, Yokohama City University Hospital, Japan

Features of pathogenic variants in dysfelrin gene in Japan‌Toshiaki Takahashi1, Naoki Suzuki2, Rumiko Izumi2,3, Chikako Yaginuma4, Naoko Shimakura2,
Yasuko Shimosegawa5, Tomoko Totsune1, Yoko Sugimura1, Takahiko Sasaki6, Masaru Yoshioka1,
Toru Baba1, Hideki Oizumi1, Hiroyasu Tanaka1, Hitoshi Warita2, Tetsuya Niihori3, Atsushi Takeda1,
Yoko Aoki3, Masashi Aoki2
1
2
3
4
5
6

P2-04-3‌Departmentof Neurology and Division of Clinical Research, National Hospital Organization Sendai-Nishitaga
Hospital, Japan‌Department of Neurology, Tohoku University School of Medicine, Japan‌Department of Medical Genetics, Tohoku University School of Medicine, Japan‌Departments of Clinical Laboratory and Division of Clinical Research, National Hospital Organization SendaiNishitaga Hospital, Japan‌Departments of Neurosurgery, National Hospital Organization Sendai-Nishitaga Hospital, Japan‌Departments of Internal Medicine and Division of Clinical Research, National Hospital Organization SendaiNishitaga Hospital, JapanA Japanese boy with muscle weakness and elevated serum CK was detected withcompound heterozygous variants in POMGNT2‌
HiroakiHanafusa1, Yoshinori Nambu1, Shoko Sonehara1, Ryosuke Bo1, Kandai Nozu1,
Hiroyuki Awano1,2
1
2

‌
Kobe
University Graduate School of Medicine, Japan‌Organization for Research Initiative and Promotion, Tottori University, Japan

114

P2-04-4

Generation of a model cell system to track trisomy correction during reprogramming in
aneuploidy syndromes‌Silvia Akutsu, Risa Matsumura, Takaki Asano, Shinya Matsuura
Hiroshima University, Japan

P2-04-5

Investigation of the clinical course of SMN2 gene 4-copy cases: In relation to the "4copy problem" in newborn screening‌Mamoru Yokomura, Tamaki Kato, Mari Urano, Mayuri Ito, Kayoko Saito
Tokyo Women's Medical University, Japan

P2-04-6

Comprehensive genetic analysis in Japanese Parkinson's disease‌Hiroyo Yoshino1, Yuanzhe Li1,2, Aya Ikeda2, Arisa Hayashida2, Kensuke Daida2, Mayu Ishiguro2,
Manabu Funayama1,2, Kenya Nishioka2, Nobutaka Hattori1,2,3
1
23

P2-04-7‌Graduate
School of Medicine, Juntendo University, Japan‌Juntendo University School of Medicine, Japan‌RIKEN Center for Brain Science, Japan

Clinical and epidemiological study of CANVAS (cerebellar ataxia, neuropathy, andvestibular areflexia syndrome) in Japan‌
Yuka
Hama1, Hidetoshi Date1, Hidehiro Mizusawa2, Yuji Takahashi1, J-CAT (Japan Consortium ofAtaxias)3
1
2
3

P2-04-8‌National
Center Hospital, National Center of Neurology and Psychiatry, Japan‌National Center of Neurology and Psychiatry, Japan‌J-CAT (Japan Consortium of Ataxias), Japan

Long-read whole-genome sequencing and phasing analyses of a patient alone
revealed complex biallelic CC2D2A variants‌
KumikoYanagi1, Kazuhito Satou1, Arisa Igarashi1, Tomomi Hidai1, Taiga Aoki1, Takahiko Iida1,
Masahiko Yamamori1, Yoichi Matsubara2, Tadashi Kaname11
2‌
GenomeMedicine, National Center for Child Health and Development, Japan‌National Center for Children's Health and Development, Japan

Poster Session 2-05
Date

Differences of Sex Development：Friday, October 13, 2023

P2-05-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Blepharophimosis-ptosis-epicanthus inversus syndrome diagnosed with uterine cancer‌Sana Yokoi1, Ryoko Suzuki1, Reiko Ohara2
1
2

P2-05-2‌
Chiba
Cancer Center, Japan‌Kimitsu Chuo Hospital, Japan

Microdeletion within ESR1 constitutes a susceptibility factor for the development ofundermasculinized genitalia‌
Yohei
Masunaga1, Yasuko Fujisawa1, Maki Fukami2, Hirotomo Saitsu1, Naoyuki Kamatani3,
Tsutomu Ogata412
3
4

P2-05-3‌Hamamatsu
University School of Medicine, Japan‌National Research Institute for Child Health and Development, Japan‌StaGen Co., Ltd., Japan‌Hamamatsu Medical Center, Japan

Karyotypes of 20 cases of Turner syndrome experienced in our department‌Ruriko Maruyama, Masatoshi Yamaguchi, Koutarou Doi, Shinji Katsuragi
Miyazaki University, Japan

115

P2-05-4

A rare case report of primary amenorrhea-associated turner syndrome and mullerian
agenesis‌M. P. Budyandini Dyah Pramesti1,2, Ria Margiana1,3,4,5, Tjahjo Djojo Tanodjo1,5
1
2
3
4
5

P2-05-5‌Andrology
Program, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia‌Department of Biomedical Sciences, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia‌Department of Anatomy, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia‌Master's Programme Biomedical Sciences, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia‌Dr. Soetomo General Academic Hospital, Surabaya, Indonesia

Phenotype and genotype of lipoid congenital adrenal hyperplasia due to StAR genemutation‌Thu Ha Nguyen, Chi Dung Vu, Phuong Thao Bui, Ngoc Khanh Nguyen, Thi Bich Ngoc Can
Vietnam National Children’s Hospital, Department of Pediatric Endocrinology and Diabetes, Center for
Endocrinology, Metabolism, Genetics / Genomics and Molecular Therapy, Vietnam

Poster Session 2-06
Date

Technological Advances, Wet and Dry 2：Friday, October 13, 2023

P2-06-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Enhancing Aspergillus IgG with biomarkers and deep learning for chronic pulmonary
aspergillosis diagnosis and outcomes‌Chia-Ni Hsiung1, Meng-Rui Lee2
1
2

P2-06-2‌Instituteof Statistical Science, Academia Sinica, Taiwan‌Department of Internal Medicine, National Taiwan University Hospital, Taiwan

Whole transcriptome RNA sequencing reveals distinct gene set enrichment profile ineosinophilic chronic rhinosinusitis‌Tomomitsu
Hirota1, Natsuki Inoue1,2, Daiki Nakashima1,3, Eri Mori3, Kazuhiro Omura3,
Tsuguhisa Nakayama3,4, Nobuyoshi Otori3, Hiromi Kojima3, Mayumi Tamari1
12
3
4

P2-06-3‌Divisionof Molecular Genetics, Research Center for Medical Science, The Jikei University School of Medicine,Japan‌Department of Otorhinolaryngology, Toho University Ohashi Medical Center, Japan‌Department of Otorhinolaryngology, The Jikei University School of Medicine, Japan‌Department of Otorhinolaryngology, Head and Neck Surgery, Dokkyo Medical University, Japan

Unraveling Zika virus impact on the CNS: Systems biology insights into immunemediated neurodevelopmental changes‌
Tojo
Nakayama1,2, Kimino v1,3, Amanda Guise1, Christoph Schlaffner1, Anais Meziani1,
Mukesh Kumar1, Long Cheng1, Dylan Vaughan1, Andrew Kodani4, Simon Van Haren1,
Kenneth Parker5, Ofer Levy1,8, Ann Durbin6,9, Irene Bosch6,9, Lee Gehrke6,9, Hanno Steen1,
Ganeshwaran Mochida1,7, Judith Steen1
1
2
3
4
5
6
7
8
9

P2-06-4‌
BostonChildren's Hospital, USA‌Tokyo Medical and Dental University, Japan‌Keio University School of Medicine, Japan‌St. Jude Children’s Research Hospital, USA‌SimulTOF Systems, USA‌Harvard Medical School, USA‌Massachusetts General Hospital, USA‌Broad Institute of Massachusetts Institute of Technology and Harvard, USA‌Massachusetts Institute of Technology, USA

Characteristics of sequences and variants of cancer-related genes focusing on codon
usage and 2AA patterns : Part1‌Yuta
Hamano, Nao Kamae, Mika Mizoguti, Takesi Kumagai, Takuya Sugimoto, Nami Ota,
Sawako Minami
Wakayama Medical University Hospital, Japan

116

P2-06-5

eQTL analysis for full length transcripts using long-read technology reveals a lot of
splicing variant-specific eQTLs‌Yuya Nagura1, Mihoko Shimada2, Akihiro Fujimoto1
1
2

P2-06-6‌
Schoolof International Health Graduate School of Medicine, The University of Tokyo, Japan‌Genome Medical Science Project (Toyama), National Center for Global Health and Medicine (NCGM), Japan

Genomic and transcriptomic analysis using long-read data by sequence reconstruction‌Ko Ikemoto, Akihiro Fujimoto
School of Medicine, The Universisty of Tokyo, Japan

P2-06-7

Investigating the role of repeat elements in promoting the transition of MCF-7 cells to
LTED cells‌Shengliang Ni1, Xufeng Shu1,4, Martin C Frith1,2,3
1
2
3
4

P2-06-8‌Graduate
School of Frontier Sciences, The University of Tokyo, Japan‌Artificial Intelligence Research Center, AIST, Tokyo, Japan‌Computational Bio Big-Data Open Innovation Laboratory, AIST, Tokyo, Japan‌RIKEN Center for Integrative Medical Sciences, Yokohama, Japan

Target-capture long-read sequencing revealed novel intron retention in patient withtuberous sclerosis complex‌Hiroki Ura1, Sumihito Togi1,2, Yo Niida1,2
1
2

P2-06-9‌Kanazawa
Medical University Hospital, Japan‌Kanazawa Medical University, Japan

Full-genome analysis in diagnoses of patients suspicious of genetic disorders‌Ni-Chung
Lee1, Hsiao-Jung Kao3, Hung-Lun Chiang4, Hsiao-Huei Chen3, Yen-Yin Chou5,
Hsueh-Wen Hsueh6, Sung-Tsang Hsieh6, Pi-Chuang Fan1, Yi-Fang Tu5, Ru-Li Lin7, Yin-Hsiu Chien1,2,
Wuh-Liang Hwu1,2, Chien-Ling Lin4, Pui-Yan Kwok3,4,8
1
2
3
4
5
6
7
8

P2-06-10‌Departmentof Pediatrics, National Taiwan University Hospital, Taipei, Taiwan‌Departments of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan‌Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan‌Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan‌Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung
University, Tainan, Taiwan‌Departments of Neurology, National Taiwan University Hospital, Taipei, Taiwan‌Departments of Pediatrics, Linko Chang Gung Memorial Hospital, Taoyuan, Taiwan‌Cardiovascular Research Institute, Institute for Human Genetics, and Department of Dermatology, University ofCalifornia, San Francisco, USA

Evaluation of a novel on-demand genetic testing method, targeted RNA long-ampliconsequencing (rLAS)‌Sumihito Togi1,2, Hiroki Ura1,2, Hisayo Hatanaka2, Yo Niida1,2
1
2

P2-06-11‌Kanazawa
Medical University, Japan‌Kanazawa Medical University Hospital, Japan

Long-read sequencing revealing intragenic deletions in exome-negative spastic
paraplegias‌
Hiromi
Fukuda1,2, Takeshi Mizuguchi1, Hiroshi Doi2, Shinichi Kameyama1,3, Misako Kunii2,
Hideto Joki2,4, Tatsuya Takahashi4, Hiroyasu Komiya2, Mei Sasaki5, Yosuke Miyaji2, Sachiko Ohori1,6,7,
Eriko Koshimizu1, Yuri Uchiyama1,8, Naomi Tsuchida1,8, Atsushi Fujita1, Kohei Hamanaka1,
Kazuharu Misawa1,9, Satoko Miyatake1,6, Fumiaki Tanaka1, Naomichi Matsumoto1
1
2
3
4
5
6
7
8
9

‌
Departmentof Human Genetics, Yokohama City University Graduate School of Medicine, Japan‌Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan‌Department of Pathology, Keio University School of Medicine, Japan‌Department of Neurology, National Hospital Organization Yokohama Medical Center, Japan‌Department of Neurology, Yokohama Minami Kyosai Hospital, Japan‌Department of Clinical Genetics, Yokohama City University Hospital, Japan‌Department of Genetics, Kitasato University Hospital, Japan‌Department of Rare Disease Genomics, Yokohama City University Hospital, Japan‌RIKEN Center for Advanced Intelligence Project, Japan117

P2-06-12

Analysis of variants of secondary findings from clinical sequencing at our hospital‌
Naoko
Sato1, Masaki Tanaka1, Junko Nomoto1, Kanako Fukushima2, Masakazu Nishigaki2,
Shoji Tsuji1,2
12‌International
University of Health and Welfare, Japan‌International University of Health and Welfare Narita Hospital, Japan

Poster Session 2-07
Date

Cancer Genomics, Germline 2：Friday, October 13, 2023

P2-07-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

A case of hereditary paraganglioma-pheochromocytoma syndrome with pathogenic
variant in SDHA‌Natsuki Naka, Miho Kakuta, Katsuya Iuchi, Goh Yamamoto, Kiwamu Akagi
Saitama Cancer Center, Japan

P2-07-2

Characteristics of pathogenic germline variants with BRCA1/2 in unselected Japanesepatients with ovarian cancer‌Ayaka
Saito1,2, Akira Hirasawa2,3, Maki Tanioka4, Kanako Tsukamoto1, Kazuyo Kiribayashi1,
Naofumi Watanabe1,5, Mizuki Takano1, Kako Kuroiwa1, Rioko Iida1, Yurie Sato1, Orie Kobayashi1,
Kazuya Tamura1, Satoshi Umezawa1
1
2
3
4
5

P2-07-3‌Departmentof Obstetrics and Gynecology, Japanese Red Cross Musashino Hospital, Japan‌Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences,
Okayama University, Okayama, Japan‌Department of Surgery, Japanese Red Cross Musashino Hospital, Tokyo, Japan‌Medical AI project, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan‌Department of Genetic Medicine, Fukushima Medical University Hospital, Japan

Hereditary tumor-specific chatbot system with Large Language Model and LangChain‌Mashu Futagawa1,2, Ryuuichi Nakahara3, Maki Tanioka4, Akira Hirasawa1,2
1
2
3
4

P2-07-4‌Departmentof Clinical Genetics and Genomic Medicine, Okayama University Hospital, Japan‌Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Science,
Okayama University, Japan‌Department of Orthopaedic Surgery, Okayama University Hospital, Japan‌Clinical AI Human Resources development Program, Graduate School of Medicine, Dentistry andPharmaceutical Science, Okayama University, JapanA Family with BAP1 tumor predisposition syndrome identified by cancer genome
profiling test and confirmatory testing‌HarukaYamamoto1, Motoko Sasaki1,2, Tomohiro Nakayama1, Sachio Tsuchida1, Katsuhiro Miura1,
Hiroshi Umemura1, Masahiko Tanabe3, Katsutoshi Oda3
1
2
3

‌
Nihon
University School of Medicine, Japan‌Ochanomizu University, Japan‌The University of Tokyo Hospital, Japan118

P2-07-5

Open-ended responses to a multicenter survey of the secondary finding disclosure
process for cancer genome profiling‌
Saki
Shimada1,2, Takahiro Yamada1,3,15, Akari Minamoto4, Manami Matsukawa1,5,15,
Ichiro Yabe3,15, Yoko Aoki6,15, Katsutoshi Oda7,15, Arisa Ueki8,15, Satomi Higashigawa9,15,
Maki Morikawa10,15, Yuki Sato11,15, Akira Hirasawa12,15, Masanobu Ogawa1,13,15, Tomohiro Kondo14,15,
Masahiro Yoshioka14,15, Masashi Kanai14,15, Manabu Muto14, Shinji Kosugi1,15
1
2
3
4

‌
Kyoto
University Graduate School of Medicine, Japan‌Clinical Genetics Center, Kansai Medical University Hospital, Japan‌Division of Clinical Cancer Genomics, Hokkaido University Hospital, Japan‌Department of Genetic Counseling, National Center Hospital, National Center of Neurology and Psychiatry,Japan
5 ‌Department of Genetic Medicine and Services, National Cancer Center Hospital, Japan6 ‌Department of Medical Genetics, Tohoku University School of Medicine, Japan
7 ‌Division of Integrative Genomics, The University of Tokyo, Japan
8 ‌Center for Medical Genetics, Keio Cancer Center, Keio University School of Medicine, Japan9 ‌Division of Clinical Genetics, Shizuoka Cancer Center, Japan10 ‌Medical Genome Center, Nagoya University Hospital, Japan11 ‌Department of Genetic Counseling, Osaka University Hospital, Japan12 ‌Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences,
Okayama University, Japan13 ‌Department of Clinical Genetics and Medicine, Kyushu University Hospital, Japan14 ‌Department of Therapeutic Oncology, Graduate School of Medicine, Kyoto University, Japan15 ‌Secondary Findings Working Group (SFWG), Liaison Council for Designated Core Hospitals, etc. for Cancer
Genomic Medicine

P2-07-6

Current status and issues of genetic medicine after cancer gene panel testing in our
hospital‌
Naomi
Araki1, Hideyasu Tsumura1,2, Sachiko Ohori1, Rika Kawata1, Masao Araki1, Segi Furukawa1,3,
Mina Waraya1, Jiichiro Sasaki4, Fumio Takada1,5
1
2
3
4
5

P2-07-7‌Kitasato
University Hospital, Japan‌Department of Urology, Kitasato University School of Medicine, Japan‌Department of Gynecology, Kitasato University School of Medicine, Japan‌New Century Medical Development Center Cross-sectional Medical Area Development, Kitasato University
School of Medicine, Japan‌Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Japan

Challenges and opportunities in cancer genomics practice in a cooperative hospital forcancer genomic medicine‌
Shogo
Watari1,2, Akira Hirasawa3, Hiromasa Shiraishi2, Moto Tokunaga2, Risa Kubota2,
Norihiro Kusumi2, Takaharu Ichikawa2, Tomoyasu Tsushima2, Yoko Shinno4, Tomohiko Mannami5,
Haruhiro Yamashita6, Ichiro Akiyama7, Kiichiro Kanamitsu8, Mutsuko Yamashita9,
Kazutaka Sunami10
1
2
3

‌
NHO
Okayama Medical Center, Japan‌Department of Urology, National Hospital Organization Okayama Medical Center, Japan‌Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences,
Okayama University, Japan4 ‌Department of Pathology, National Hospital Organization Okayama Medical Center, Japan5 ‌Department of Gastroenterology, National Hospital Organization Okayama Medical Center, Japan6 ‌Department of Oncology, National Hospital Organization Okayama Medical Center, Japan
7 ‌Department of Surgery, National Hospital Organization Okayama Medical Center, Japan
8 ‌Department of Pediatrics, National Hospital Organization Okayama Medical Center, Japan
9 ‌Cancer Supportive Care Center, National Hospital Organization Okayama Medical Center, Japan10 ‌Department of Hematology, National Hospital Organization Okayama Medical Center, Japan

P2-07-8Disclosure of secondary findings in comprehensive genomic profiling (CGP) at Sapporo
Medical University Hospital‌
Yumi
Tanaka1, Kohichi Takada2, Tomohiro Kubo2, Yohei Arihara2, Ayako Murota2, Tasuku Mariya2,
Masashi Idogawa2, Sachiko Miyazaki2, Aki Ishikawa2, Akihiro Sakurai2
12‌SapporoMedical University Hospital, Japan‌Sapporo Medical University, Japan119

P2-07-9

Factors related to the selection of blood relatives to receive the examination in
BRACAnalysis-positive individuals‌Ryoko Suzuki, Reiko Ohara, Sana Yokoi
Chiba Cancer Center, Japan

P2-07-10

Familial cases of Rhabdoid Tumor Predisposition Syndrome caused by germline
mosaicism of SMARCB1 mutation‌
RyojunTakeda1,2,3, Takashi Kurata4, Hirokazu Morokawa4, Kazutoshi Komori4, Kazuo Sakashita3,4,
Tomomi Yamaguchi5,6,7, Tomoki Kosho2,5,6,7,8
1
2
3
4
5
6
7
8

P2-07-11‌NaganoChildren's Hospital, Japan‌Department of Medical Genetics, Nagano Children’s Hospital, Japan‌Life Science Research Center, Nagano Children’s Hospital, Japan‌Department of Hematology / Oncology, Nagano Children’s Hospital, Japan‌Department of Medical Genetics, Shinshu University School of Medicine, Japan‌Center for Medical Genetics, Shinshu University Hospital, Japan‌Division of Clinical Sequencing, Shinshu University School of Medicine, Japan‌Research Center for Advanced Science and Technology, Shinshu University, Japan

Association between patient' background factors and contralateral risk-reduction
mastectomy‌ Motoyoshi, Runa Sugiyama, Mizuho Tazo, Yasuyuki Kojima, Maho Ogiwara, Minami Ozawa,
Ai
Yuki Suzuki, Yodo Sugishita, Ohsuke Migita, Koichiro Tsugawa
St. Marianna University School of Medicine, Japan

P2-07-12

Prevalence of BRCA1/2 pathogenic variants in triple negative breast cancer : A single
center retrospective study‌YuichiUeda1, Hiroshi Kiyohara1, Mayumi Funagayama1, Naoko Ikeda1, Akiko Ishikawa2, Eri Seike2,
Hiromi Koyama2, Tsugumi Nagatomo2, Megumi Mitsumatsu2, Katsunori Abe3, Suguru Uwai3,
Masatoshi Yamaguchi4, Minayo Iwai4, Shinya Makino4, Junko Kawano5, Shugo Tamada1
1
2
3
4
5

P2-07-13‌
SagaraHospital Miyazaki, Japan‌Department of Nursing, Sagara Hospital Miyazaki, Japan‌Department of Medical Information, Sagara Hospital Miyazaki, Japan‌Department of Genetic Counseling, University of Miyazaki Hospital, Japan‌Department of Breast and Thyroid Surgical Oncology, Sagara Hospital, JapanA Case of RRM for maintaining CR after bone recurrence in BRCA mutation-positive
asynchronous bilateral breast cancer‌MichikoTsuneizumi1,2, Ryoichi Matsunuma1, Shoko Sato1, Sae Imada1, Rousuke Hayami1,
Tatsunori Sato2, Yuji Kanazawa2, Hiroyuki Ariyasu2, Kouhei Saito2, Rei Gou2, Masayo Ukita2,
Rieko Kosugi2, Masashi Harasaki2, Takeshi Usui2
1
2

P2-07-14‌Department
of Breast Surgery, Shizuoka General Hospital, Japan‌Department of Genetics, Shizuoka General Hospital, JapanA Case of natural pregnancy following prophylactic total colectomy for familial
adenomatous polyposis‌Yoko Aoyagi1, Kentaro Kai1, Hidefumi Shiroshita2, Takashi Masuda2, Eiji Kobayashi1
1
2

P2-07-15‌
Departmentof Obstetrics and Gynecology, Oita University, Japan‌Department of Gastroenterological and Pediatric Surgery, Oita University, Japan

Status of tumor/germline BRCA testing and genetic counseling in patients withadvanced ovarian cancer at our institution‌
Yoshikazu
Nagase, Yumi Nakao, Fuyuki Ichikawa, Naoko Komura, Asuka Tanaka,
Akihiko Yoshimura, Kumi Masuda, Fujihiro Oka, Takeshi Yokoi
Kaizuka City Hospital, Japan120

Poster Session 2-08
Date

Pediatric Genetics 2：Friday, October 13, 2023

P2-08-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

A case of 9q22.32q31.2 deletion involving ZNF462‌Ikuko Ohashi1,2, Misao Kageyama3, Miho Nagata4, Yasutaka Ishihara4, Yohei Miyashita4,
Yoshihiro Asano4, Yasuko Yamanouchi2,6, Kayo Takao2, Kazumi Tawa2, Takanobu Otomo2,5,Mitsuo Masuno6
1
2
3
4
5
6

P2-08-2‌MitoyoGeneral Hospital, Japan‌Department of Medical Genetics, Kawasaki Medical School Hospital, Japan‌Department of Neonatology, National Hospital Organization Okayama Medical Center, Japan‌Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine,Japan‌Department of Molecular and Genetic Medicine, Kawasaki Medical School, Japan‌Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare,Japan

Global developmental delay with abnormal brain MRI and feeding difficulties in a childwith DYRK1A mutation‌
TakatoAkiba1, Shino Shimada1, Shimpei Matsuda1, Natsuki Okawa1, Yosuke Baba1, Naoya Saijo2,
Atsuo Kikuchi2, Shigeo Kure2, Toshiaki Shimizu2
1
2

P2-08-3‌Departmentof Pediatrics, Juntendo University School of Medicine, Japan‌Department of Pediatrics, Tohoku University Graduate School of Medicine, Japan

Pericarditis as a complication of Sotos syndrome‌Yu Yamaguchi, Shigeru Nomura
Gunma Children's Medical Center, Japan

P2-08-4

Multi-population meta-analysis implicates immune dysregulation in pediatric steroid
sensitive nephrotic syndrome‌
MakikoNakayama1, Alexandra Barry2,3, Michelle T. McNulty2,3, Xiaoyuan Jia1,4, Yask Gupta5,
Hanna Debiec6, China Nagano2,3,7, Tomoko Horinouchi7, Seulgi Jung8, Yosuke Kwai1,
Kyuyoung Song8, Hae Il Cheong9, Prayong Vachvanichsanong10, Kandai Nozu7, Katsushi Tokunaga1,
Simone Sanna-Cherchi5, Pierre Ronco6,11, Kazumoto Iijima12,13, Matthew G. Sampson2,3,14,15
1
2
3

‌
GenomeMedical Science Project, National Center for Global Health and Medicine, Tokyo, Japan‌Division of Nephrology, Boston Children’s Hospital, Boston, MA, USA‌Kidney Disease Initiative & Medical and Population Genetics Program, Broad Institute of MIT and Harvard,
Cambridge, MA, USA
4 ‌Renal Division, Peking University Shenzhen Hospital, Shenzhen, China
5 ‌Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New
York, NY, USA
6 ‌Sorbonne Université, UPMC Paris, Institut National de la Santé et de la Recherde Médicale, Unité Mixte deRechereche, Paris, France
7 ‌Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
8 ‌Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Songpa-gu, Seoul,
Korea
9 ‌Department of Pediatrics, Hallym University Sacred Heart Hospital, Gwanpyeong-ro beon-gil, Dongan-gu,
Anyang-si, Gyeonggi-do, Korea
10 ‌Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat-Yai, Songkhla, Thailand
11 ‌Department of Nephrology, Centre Hospitalier du Mans, Le Mans, France
12 ‌Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan13 ‌Department of Advanced Pediatric Medicine, Kobe University Graduate School of Medicine, Kobe, Japan14 ‌Department of Pediatrics, Harvard Medical School, Boston, MA, USA
15 ‌Division of Renal Medicine, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School,
Boston, MA, USA

P2-08-5

Genetic autopsy for deceased patients with unknown cause of death: A report from
Saitama Children’s Medical Center‌MarikoSagara, Sayuri Oda, Kenta Hasumi, Miyu Fukushima, Miwako Kizumi, Yuki Sawada,
Miwa Kobayashi, Kei Tonezawa, Takuya Hayashi, Riki Nishimura, Chika Kanno, Kayoko Ichimura,
Atsuko Nakazawa, Daiju Oba, Akira Oka, Hirofumi Ohashi
Saitama Children's Medical Center, Japan

121

P2-08-6

Semi-rapid-NGS diagnosis for severely ill patients: a report from Saitama Children’s
Medical Center‌SayuriOda, Daiju Oba, Satoshi Tonezawa, Takuya Hayashi, Riki Nishimura, Chika Kanno,
Kenta Hasumi, Miyu Fukushima, Mariko Sagara, Yuki Sawada, Miwako Kizumi, Masahiro Koyama,
Atsuko Nakazawa, Akira Oka, Hirofumi Ohashi
Saitama Children's Medical Center, Japan

P2-08-7

CHD7, the causative gene of CHARGE syndrome, has a DSB repair function coupledwith morphogenesis in fetal development‌Asao Noda, Kaori Muramoto, Shuji Mishima
Radiation Effects Research Foundation, Japan

P2-08-8

Lower diagnostic rate for undiagnosed multiple malformations and intellectual disability
in sibling patients compared to solitary cases by NGS analysis‌Seiji Mizuno1, Mie Inaba1, Tomoko Uehara1, Natsuki Nakamura1, Shin Hayashi2
1
2

P2-08-9‌Aichi
Developmental Disability Center Hospital, Japan‌Institute for Developmetal Research, Aichi Developmental Disability Center, Japan

Presymptomatic genetics testing in an infant with a father with the SCN5A-positive
Brugada syndrome‌
NorikoOnishi1,2, Masafumi Utsumi3, Tomomi Yamaguchi1,4,5, So Nagai1,2,5, Tomomi Kojima1,
Yoko Yoshida6, Ramon Brugada7,8, Takeshi Aiba9, Tomoki Kosho1,4,5,10
1
2‌Centerfor Medical Genetics, Shinshu University Hospital, Japan‌Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super
Doctor) Project, Japan
3 ‌Department of Pediatrics, Shinshu University School of Medicine, Japan4 ‌Department of Medical Genetics, Shinshu University School of Medicine, Japan5 ‌Division of Clinical Sequencing, Shinshu University School of Medicine, Japan6 ‌Division of Pediatric Electrophysiology, Osaka City General Hospital, Japan
7 ‌Cardiac Genetics Clinical Unit, Hospital Universitari Josep Trueta, Hospital Santa Caterina, Spain
8 ‌Cardiovascular Genetics Center and Clinical Diagnostic Laboratory, Institut d'Investigació Biomèdica GironaIdIBGi, Spain
9 ‌Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan10 ‌Research Center for Advanced Science and Technology, Shinshu University, Japan

P2-08-10

IFIH1 gain of function variants in three individuals: A continuum of multiple facets oftype I Interferonopathy‌
Shino
Shimada1,2,3, Joshi Stephen3, Sheela Nampoothiri2,4, Hirotsugu Oda6, Linnea Laudh2,
Lynne A. Wolfe2, Camilo Toro2,5, Cynthia J. Tifft2,5, David R. Adams2,3,5, William A. Gahl2,3,
May Christine V. Malicdan2,3,5
1
2
3
4
5
6

P2-08-11‌Juntendo
University, Japan‌NIH Undiagnosed Disease Program, Common Fund, Office of the Director and the National Human Genome
Research Institute, National Institutes of Health, Bethesda, USA‌Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda,
MD, USA‌Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Kerala, India‌Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health,Bethesda, MD, USA‌Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health,Bethesda, MD, USA

Exploration of a responsible sequence for aberrant hypermethylation at maternal H19ICR and BWS-like phenotypes in mice‌SatoshiHara, Fumikazu Matsuhisa, Shuji Kitajima, Hitomi Yatsuki, Musashi Ichimaru,
Ken Higashimoto, Hidenobu Soejima
Saga University, Japan122

P2-08-12

A case of epilepsy caused by SLC6A1 disruption by de novo balanced chromosomaltranslocation‌
Masamune
Sakamoto1,2,4, Tatsuo Mori3,5, Takahiro Tayama3,5, Aya Goji3,5, Yoshihiro Toda3,5,
Atsushi Fujita1, Takeshi Mizuguchi1, Maki Urushihara3, Naomichi Matsumoto1
1
2
3
4
5

P2-08-13‌Yokohama
City University Graduate School of Medicine, Japan‌Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan‌Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Japan‌Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan‌Division of Epilepsy Center, Tokushima University Hospital, Japan

Clinical phenotype of japanese infants with CEP290-associated leber congenitalamaurosis‌HazukiMorikawa1,2, Sachiko Nishina1, Kaoruko Torii3, Masakazu Takayama3, Katsuhiro Hosono3,
Tomoka Kanbe4, Hirotomo Saitsu3, Maki Fukami1, Yuichi Hori2, Yoshihiro Hotta3
12
3
4

P2-08-14‌National
Center for Child Health and Development, Japan‌Department of Ophthalmology, Toho University Graduate School of Medicine, Japan‌Hamamatsu University School of Medicine, Japan‌Saitama Prefectural Children’s Medical Center, Japan

Identification of different pathogenic variants in siblings with intellectual disability‌
WataruTanikawa1, Kenichi Kinjo1, Yohei Masunaga1, Yasuko Fujisawa1, Yoko Masui2,
Konosuke Otaka2, Tsutomu Ogata1,3
1
2
3

P2-08-15‌
Hamamatsu
University School of Medicine, Japan‌Iwata City Hospital, Japan‌Hamamatsu Medical Center, Japan

Genetic testing averts unnecessary pharmacological treatment in a case of MODY2‌
Yumi
Matsuyama1,2, Kumiko Kato3, Sayaka Ishikawa4, Kimiko Asai2, Takenori Ogawa2,
Yukio Horikawa2
12
3
4

P2-08-16‌
Divisionof Molecular Medicine, Institute for Clinical Research, National Hospital Organization, Osaka National
Hospital, Japan‌Gifu University Hospital, Clinical Genetics Center, Japan‌Department of Surgery, Fukui-ken Saiseikai Hospital, Japan‌Department of Pediatrics, Fukui-ken Saiseikai Hospital, Japan

A case of infantile spasms with three possible pathogenic de novo missense variants in
NF1 and GABBR1‌Kazuki Watanabe1, Kazuo Kubota2,3, Mitsuko Nakashima1, Hirotomo Saitsu1
1
2
3

P2-08-17‌
Hamamatsu
University School of Medicine, Japan‌Gifu University Graduate School of Medicine, Japan‌Gifu University Hospital, Japan

Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder withcentral precocious puberty‌Nobuhiko Okamoto1, Sayaka Yoshida2, Yuri Etani3, Kumiko Yanagi4, Tadashi Kaname41
2
3
4

P2-08-18‌
Departmentof Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi, Osaka, Japan‌Department of Pediatrics, Nara Prefecture General Medical Center, Nara, Japan‌Department of Gastroenterology, Nutrition and Endocrinology, Osaka Women’s and Children’s Hospital, Izumi,
Osaka, Japan‌Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan

Epigenetic signatures help interpret a nonsense variant with uncertain significance inthe last exon of the KMT2A gene‌
Kyoko
Takano1,2, Tomoko Kawai3, Tomomi Yamaguchi1,2,4, Kazuhiko Nakabayashi3, Kenichiro Hata3,5,
Shinji Saitoh6, Tomoki Kosho1,2,4
1
2
3
4
5
6

‌
Centerfor Medical Genetics, Shinshu University Hospital, Japan‌Department of Medical Genetics, Shinshu University School of Medicine, Japan‌Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Japan‌Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan‌Department of Human Molecular Genetics. Gunma University Graduate School of Medicine, Gunma, Japan‌Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan123

P2-08-19

A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy‌Osamu
Machida1,2, Taichi Imaizumi3, Yusaku Miyamoto3, Rina Shimomura1,2, Tomoe Yanagishita2,
Keiko Shimojima Yamamoto4,5, Miho Nagata6, Yasuki Ishihara6,7, Yohei Miyashita6,7,
Yoshihiro Asano6,7, Toshiyuki Yamamoto1,5
1
2
3
4
5
6
7

P2-08-20‌
Divisionof Gene Medicine, Graduate School of Medical Science, Tokyo Women’s Medical University, Japan‌Department of Pediatrics, Tokyo Women’s Medical University, Japan‌Department of Pediatrics, St. Marianna University School of Medicine, Japan‌Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University, Japan‌Institute of Medical Genetics, Tokyo Women’s Medical University, Japan‌Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan‌Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Japan

A novel nonsense mutation of the BCL11A gene in a girl with high fetal hemoglobin‌
HirokoKashiwagi1, Kaoru Ueyama1, Daisuke Harada1, Naomichi Matsumoto3, Noriyuki Namba2,
Yoshiki Seino1
1
2
3

P2-08-21‌
Japan
Community Health Care Organization (JCHO) Osaka Hospital, Japan‌Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Japan‌Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan

A novel FBN1 variant associated with mild cardiac phenotype of neonatal Marfan
syndrome‌Kentaro Shirai1, Rina Shimomura2, Senri Kameyama1, Tsutomu Kondo3, Toshiyuki Yamamoto4
12
34

P2-08-22‌
Tsuchiura
Kyodo General Hospital, Japan‌Department of Pediatrics, Tokyo Womens's Medical University, Japan‌Department of Neonatology, Tsuchiura Kyodo General Hospital, Japan‌Department of Medical Genetics, Tokyo Women's Medical University, Japan

Autoimmune disease in Kabuki syndrome‌
Keisuke
Kato1, Ai Yoshimi1, Koh-ichiro Yoshiura2, Yoko Saito-Nakamura3, Satoru Matsushima4,
Hiroyuki Miyahara3, Akimitsu Watanabe3, Masahiro Tsuchida1
1234P2-08-23‌
IbarakiChildren’s Hospital, Japan‌Nagasaki University School of Medicine, Japan‌Tsuchiura Kyodo General Hospital, Japan‌Sapporo Hokuyu Hospital, Japan

Aberrant RET expressions effect in multifactorial Hirschsprung Disease‌
FadilaUtami1, Laudria Stella Eryvinka1, Verell Christopher Amadeus1, Setiani Silvi Nurhidayah1,
Kristy Iskandar2, Eko Purnomo1, Gunadi1
1
2

P2-08-24‌
Pediatric
Surgery Division, Department of Surgery / Genetics Working Group, Faculty of Medicine, Public
Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia‌Department of Child Health / Genetics Working Group, Faculty of Medicine, Public Health and Nursing,
Universitas Gadjah Mada / UGM Academic Hospital, Yogyakarta, Indonesia

A rare FHL inheritance scenario in half-brothers‌
Chinmayee
Bhimarao Nagaraj1, Shannon Lozinsky2, Kristina Emeghebo2, Indira Sahdev2,
Carolyn Levy2, Teresa Smolarek1,3, Wenying Zhang1,3
1
2
3

P2-08-25‌Cincinnati
Children's Hospital, USA‌Cohen Children’s Medical Center Northwell Health, USA‌University of Cincinnati, USA

Response to sandostatin-LAR in a patient with CHI caused by a maternally inherited
ABCC8 heterozygous variant‌Naoto Nishimura1,2
1
2

P2-08-26‌Yokohama
Rosai Hospital, Japan‌Yokohama Minami Kyosai Hospital, Japan

A case of osteogenesis imperfecta Type II managed with pamidronate Infusion‌Maria Margarita Santiago, Marie Julianne Racoma
The Medical City, Institute of Pediatrics, Philippines

124

Poster Session 2-09
Date

Rare Diseases 2：Friday, October 13, 2023

P2-09-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

A sibling of mid Xq28 microduplication syndrome with developmental delay diagnosed
by chromosomal microarray analysis‌KosukeYamada1, Ayumi Kurebayashi1, Tomomi Murakami2, Shigeichi Kobayashi3, Kensuke Otsubo4,
You Fujimoto4, Atsushi Hamano5, Hirotsugu Kitayama6, Kenji Shimizu1
1
2
3
4
5
6

P2-09-2‌Departmentof Clinical Genetics and Cytogenetics, Shizuoka Children’s Hospital, Shizuoka, Japan‌Department of Pediatric Neurology, Shizuoka Children’s Hospital, Shizuoka, Japan‌Department of Developmental Pediatrics, Shizuoka Children’s Hospital, Shizuoka, Japan‌Department of Orthopedics, Shizuoka Children’s Hospital, Shizuoka, Japan‌Department of Urology, Shizuoka Children’s Hospital, Shizuoka, Japan‌Department of Nephrology, Shizuoka Children’s Hospital, Shizuoka, Japan

Whole-genome sequencing analysis in 96 families with rare or undiagnosed diseases‌
Tadashi
Kaname1, Kumiko Yanagi1, Takaya Iida1, Taiga Aoki1, Arisa Igarashi1, Masahiko Yamamori1,
Kazuhito Satou1, NCCHD IRUD Cooperative Hospitals2, Yoichi Matsubara1
1
2

P2-09-3‌National
Center for Child Health and Development, Japan‌IRUD Cooperative Hospitals of NCCHD, Japan

Establishment of a mouse model of Sotos syndrome and its phenotypic analysis‌
Ken
Higashimoto1,5, Keizo Takao6, Fumikazu Matsuhisa2, Yoshichika Yoshioka7, Yuzo Murata3,
Takehisa Sakumoto4, Satoshi Hara5, Musashi Ichimaru5, Hitomi Yatsuki5, Shuji Kitajima2,
Shigehisa Aoki4, Koh-ichiro Yoshiura8, Hidenobu Soejima5
1
2
3
4
5
6
7
8

P2-09-4‌Facultyof Medicine, Saga University, Japan‌Division of Biological Resources and Development, Analytical Research Center for Experimental Sciences, Saga
University, Japan‌School of Health Sciences at Fukuoka, International University of Health and Welfare, Japan‌Division of Pathology, Department of Pathology and Microbiology, Faculty of Medicine, Saga University, Japan‌Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine,
Saga University, Japan‌Department of Behavioral Physiology, Faculty of Medicine, University of Toyama, Japan‌Graduate School of Frontier Biosciences, Osaka University, Japan‌Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Japan

Identification of a candidate drug for the treatment of Facioscapulohumeral muscular
dystrophy‌Takahiro
Yoshizawa1,2, Yoshitaka Tomiyama3, Naoko Shiba4, Tomohide Takaya5, Daigo Miyazaki6,10,
Tsutomu Nakada2, Yuji Shiba2,4, Akinori Nakamura6,7, Tomoki Kosho2,8,9,11
1 ‌Shinshu University, Japan
2 ‌Research Center for Advanced Science and Technology, Shinshu University, Japan
3 ‌Department of Drug Discovery Science, Shinshu University School of Medicine, Japan4 ‌Department of Regenerative Science and Medicine, Shinshu University School of Medicine, Japan5 ‌Department of Agriculture, Graduate School of Science and Technology, Shinshu University, Japan6 ‌Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
7 ‌Department of Neurology, National Hospital Organization Matsumoto Medical Center, Japan
8 ‌Department of Medical Genetics, Shinshu University School of Medicine, Japan
9 ‌Center for Medical Genetics, Shinshu University Hospital, Japan10 ‌Shinshu Medical Care Collaboration Center (Division of Support for Intractable Disease), Shinshu University
Hospital, Japan11 ‌Division of Clinical Sequencing, Shinshu University School of Medicine, Japan

P2-09-5

Pathophysiological investigation on skeletal manifestations of Musculocontractural
Ehlers Danlos Syndrome‌
Yuki
Takahashi1, Takahiro Yoshizawa2, Fumiko Ono1, Shuji Mizumoto3, Shuhei Yamada3,
Tomoki Kosho1,4,5,6
1
2
3
4
5
6

‌
Departmentof Medical Genetics, Shinshu University School of Medicine, Japan‌Division of Animal Research, Research Center for Advanced Science and Technology, Shinshu University, Japan‌Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Japan‌Center for Medical Genetics, Shinshu University Hospital, Japan‌Research Center for Advanced Science and Technology, Shinshu University, Japan‌Division of Clinical Sequencing, Shinshu University School of Medicine, Japan125

P2-09-6

Japanese siblings of cartilage-hair hypoplasia with a novel compound heterozygous
variant in RMRP‌
Naonori
Kumagai1, Yusuke Funato1, Manabu Wakamatsu2, Hideki Muramatsu2, Hiroki Takao1,
Hiroki Kurahashi1, Haruo Mizuno1
1
2

P2-09-7‌Departmentof Pediatrics, School of Medicine, Fujita Health University, Japan‌Nagoya University, JapanNOTCH2NLC GGC repeat expansion in Japanese patients with undiagnosed
leukoencephalopathy‌
Ikuko
Mizuta1, Hiraku Matsuura1, Chisato Tamai2, Rei Yasuda1, Akiko Watanabe-Hosomi1,
Daiki Fukunaga1, Takashi Koizumi1,3, Mao Mukai1, Tomoyuki Ohara1, Tomokatsu Yoshida1,4,
Jun Sone2, Toshiki Mizuno1
12
3
4

P2-09-8‌Departmentof Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan‌Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Japan‌Department of Anatomy and Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of
Medicine, Japan‌Department of Neurology, Japan Community Health care Organization Kobe Central Hospital, Japan

Detection of somatic variants in epileptogenic brain lesions‌AtsushiFujita1, Mitsuhiro Kato2, Hidenori Sugano3, Yasushi Iimura3, Hiroharu Suzuki3,
Jun Tohyama4, Masafumi Fukuda5, Yosuke Ito5, Shimpei Baba6, Tohru Okanishi7, Hideo Enoki8,
Ayataka Fujimoto9, Akiyo Yamamoto10, Kentaro Kawamura10, Shinsuke Kato10, Ryoko Honda11,
Tomonori Ono12, Hideaki Shiraishi13, Kiyoshi Egawa13, Kentaro Shirai14, Shinji Yamamoto15,
Itaru Hayakawa16, Hisashi Kawawaki17, Ken Saida1, Naomi Tsuchida1,18, Yuri Uchiyama1,18,
Kohei Hamanaka1, Satoko Miyatake1,19, Takeshi Mizuguchi1, Mitsuko Nakashima1,20,
Hirotomo Saitsu1,20, Noriko Miyake1,21, Akiyoshi Kakita22, Naomichi Matsumoto1
1
2
3
4
5

‌
Departmentof Human Genetics, Yokohama City University Graduate School of Medicine, Japan‌Department of Pediatrics, Showa University School of Medicine, Japan‌Department of Neurosurgery, Epilepsy Center, Juntendo University, Japan‌Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Japan‌Department of Functional Neurosurgery, Epilepsy Center, National Hospital Organization Nishiniigata Chuo
Hospital, Japan6 ‌Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Japan
7 ‌Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University,Japan
8 ‌Department of Pediatrics, Kawasaki Medical School, Japan
9 ‌Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Japan10 ‌Department of Pediatrics, Sapporo Medical University School of Medicine, Japan11 ‌Department of Pediatrics, National Hospital Organization Nagasaki Medical Center, Japan12 ‌Epilepsy Center, National Hospital Organization Nagasaki Medical Center, Japan13 ‌Department of Pediatrics, Hokkaido University Graduate School of Medicine, Japan14 ‌Department of Pediatrics, Tsuchiura Kyodo General Hospital, Japan15 ‌Department of Neurosurgery, Tsuchiura Kyodo General Hospital, Japan16 ‌Division of Neurology, National Center for Child Health and Development, Japan17 ‌Department of Pediatric Neurology, Children's Medical Center, Osaka City General Hospital, Japan18 ‌Department of Rare Disease Genomics, Yokohama City University Hospital, Japan19 ‌Department of Clinical Genetics, Yokohama City University Hospital, Japan20 ‌Department of Biochemistry, Hamamatsu University School of Medicine, Japan21 ‌Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Japan22 ‌Department of Pathology, Brain Research Institute, Niigata University, Japan

P2-09-9Autophagy enhancement induces steatosis in the developing liver of lars-knock-in
zebrafish‌Masanori
Inoue1, Wulan Sebastian1, Hiroaki Miyahara2, Nobuyuki Shimizu3, Hiroshi Shiraishi3,
Miwako Maeda1, Reiko Hanada4, Toshikatsu Hanada3, Kenji Ihara1
1
2
3
4

‌
Departmentof Pediatrics, Oita University Faculty of Medicine, Japan‌Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Japan‌Department of Cell Biology, Oita University Faculty of Medicine, Japan‌Department of Neurophysiology, Oita University Faculty of Medicine, Japan126

P2-09-10

a-Synuclein pathology is exacerbated by haploinsufficiency of Rop, the STXBP1
homolog in Drosophila melanogaster‌Taro Matsuoka1, Hideki Yoshida2, Takashi Kasai3, Takenori Tozawa1, Tomohiro Chiyonobu1,41
2
3
4

P2-09-11‌Departmentof Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto,Japan‌Department of Applied Biology, Kyoto Institute of Technology, Kyoto, Japan‌Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto,Japan‌Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural
University of Medicine, Kyoto, Japan

Functional analysis of RRAS2 pathogenic variants presenting Noonan-like phenotype‌TakayaIida1, Arisa Igarashi1, Kai Fukunaga1,2, Taiga Aoki1, Kumiko Yanagi1, Tomomi Hidai1,
Nana Kobayashi1, Yukimi Abe1, Kazuhito Satou1, Yoichi Matsubara1, Tomoki Kosho3, Hayato Go4,
Tadashi Kaname1
1
2
3
4

P2-09-12‌National
Center for Child Health and Development, Japan‌Department of Systems Biochemistry in Pathology and Regeneration, Yamaguchi University Graduate School of
Medicine, Japan‌Department of Medical Genetics, Shinshu University School of Medicine, Japan‌Department of Pediatrics, Fukushima Medical University School of Medicine, Japan

Zebrafish model for Loeys-Dietz syndrome‌ Chida, Genri Kawahara, Mami Nakayashiki, Hisashi Kawashima, Gaku Yamanaka,
Rie
Yukiko Hayashi
Tokyo Medical University, Japan

P2-09-13

Novel deletion and splice-site variant in the ADAMTS3 gene found in patients with
Hennekam syndrome‌
Arisa
Igarashi1, Yoshio Makita2, Kumiko Yanagi1, Tomomi Hidai1, Makiko Omata1, Taiga Aoki1,
Takaya Iida1, Nana Kobayashi1, Yukimi Abe1, Kazuhito Satou1, Yoichi Matsubara1, Takashi Kaname1
1
2

P2-09-14‌
Dept.
of Genome Medicine, National Research Institute for Child Health and Development, Japan‌Asahikawa Medical University Education Center, Japan

Paternal chromosome 6q24 triplication as a cause of Neonatal diabetes mellitus‌Shigeru Suzuki1, Yuichi Nishikado2, Kanayo Ochiai2, Makoto Oshiro2
1
2

P2-09-15‌Asahikawa
Medical University, Japan‌Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Japan

Diagnostic and clinical utility of genome sequencing in patients with single genediseases‌
Miao-Zi
Hung, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Yi-Lin Lin, Ching Hsu,
Yu-Hsuan Huang
National Taiwan University Hospital, Taiwan

P2-09-16

A familial case of Kikuchi-Fujimoto disease across three generations‌Cheryl Weiqi Tan1, Khadijah Rafi'ee1, Mark Koh2, Ene-Choo Tan1
1
2

P2-09-17‌ Research Centre, KK Women's and Children's Hospital, Singapore
KK‌Department of Dermatology, KK Women's and Children's Hospital, Singapore

DeSanto-Shinawi syndrome caused by novel missense WAC variant: A case report‌Kiwook Jung, Hee Sue Park
Department of Laboratory Medicine, Chungbuk National University Hospital, Cheongju, Korea

127

P2-09-18

Mutation analysis of the MECP2 gene in Thai girls referred for suspected Rett
Syndrome‌Jirakit
Sattayapornpipat1,2, Oradawan Plong-On1, Supapon Tanpor3, Chariyawan Charalsawadi1,2,
Areerat Hnoonual1,2, Pornprot Limprasert1,2
1
2
3

P2-09-19‌
Departmentof Pathology, Faculty of Medicine, Prince of Songkla University, Thailand‌Genomic Medicine Center, Faculty of Medicine, Prince of Songkla University, Thailand‌Graduate Program in Molecular Biology and Bioinformatics, Faculty of Science, Prince of Songkla University,
ThailandAll for One: Laying the Foundation for Precision Health in Canada‌Francois
Bernier1,10, Kym Boycott2,3, Magda Price2, Kathy Gratton10, Dennis Bulman1,10,
Jacques Michaud4,5, Jordan Lerner-Ellis6,8, Christian Marshall6,7, Ma'n Zawati9, Vincent Ferretti4,5,
Meredith Gillespie2
1 ‌University of Calgary, Canada
2 ‌Children's Hospital of Ontario Research Institute, Canada
3 ‌University of Ottawa, Canada
4 ‌CHU Sainte-Justine Research Center, Canada
5 ‌Université de Montréal, Canada
6 ‌University of Toronto, Canada
7 ‌The Hospital for Sick Children, Canada
8 ‌Mount Sinai Hospital, Canada
9 ‌McGill University, Canada
10 ‌Alberta Children's Hospital Research Institute, Canada

P2-09-20

DUOX2 frameshift variant in a Japanese case with diffuse goiter and schizophrenia‌Kazuyuki Oishi, Takahiro Yoshioka
Kochi Health Science Center, Japan

P2-09-21

Efficient detection of somatic UBA1 variants in patients with clinically suspected
VEXAS syndrome‌
Naomi
Tsuchida1,2,3, Yuri Uchiyama1,2, Ayaka Maeda3, Yohei Kirino3, Hideaki Nakajima3,
Naomichi Matsumoto2
1
2
3

P2-09-22‌Yokohama
City University Hospital, Japan‌Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan‌Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine,
Yokohama, Japan

A family case of metaphyseal anadysplasia type 1 caused by an autosomal dominantvariant in exon 2 of MMP13 gene‌Tomohiro
Hori1,2, Hideki Matsumoto1, Mai Mori1, Hideo Sasai1,2, Michio Ozeki1, Norio Kawamoto1,
Hidenori Ohnishi1,2
1
2

P2-09-23‌
Departmentof Pediatrics, Graduate School of Medicine, Gifu University, Japan‌Clinical Genetics Center, Gifu University Hospital, Japan

A first Japanese case with Bryant-Li-Bhoj neurodevelopmental syndrome associatedwith a novel variant in the H3-3A gene‌SumitoDateki1,3, Takafumi Yanagi3, Midori Motokawa3, Hiroyuki Mishima4, Koh-ichiro Yoshiura4,
Hiroyuki Moriuchi2,3
1
2
3
4

‌
Nagasaki
University Graduate School of Biomedical Sciences, Japan‌Department of Pediatircs, Nagasaki University Graduate School of Biomedical Sciences, Japan‌Department of Pediatrics, Nagasaki University Hospital, Japan‌Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan128

P2-09-24

Exome analysis of short root anomaly in Japanese population‌Yuki Sagawa1,2, Takuya Ogawa1, Takeaki Sudo3, Yuki Nagata4,5, Keiji Moriyama1, Toshihiro Tanaka4,5
1
2
3
4
5

P2-09-25‌Departmentof Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical
and Dental University (TMDU), Tokyo, Japan‌Department of Oral-Maxillofacial Surgery and Orthodontics, The University of Tokyo Hospital, Tokyo, Japan‌Institute of Education, Tokyo Medical and Dental University (TMDU), Tokyo, Japan‌Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo
Medical and Dental University (TMDU), Tokyo, Japan‌BioResource Research Center, Tokyo Medical and Dental University (TMDU), Tokyo, Japan

Homozygous exon 6-7 deletion of TMEM260 identified in a Japanese family withtruncus arteriosus‌Yumi Enomoto, Yukiko Kuroda, Yoko Saito, Takuya Naruto, Kenji Kurosawa
Kanagawa Children’s Medical Center, Japan

P2-09-26

A biallelic missense variant in the GSDMD gene in a patient of atypical Gorham-Stout
disease in a consanguineous family‌YoichiEzura1, Daniela Tiaki Uehara2, Tomoki Muramatsu2, Senichi Ishii3, Hidetsugu Suzuki3,
Kazuyuki Fukushima3, Yasuhiro Arasaki4, Tadayoshi Hayata4, Johji Inazawa2
12
3
4

P2-09-27‌TeikyoHeisei University, Japan‌Tokyo Medical and Dental University, Japan‌Saku Central Hospital Advanced Care Center, Japan‌Tokyo University of Science, Japan

A patient with Coffin-Siris syndrome caused by a novel splice-disruptive variant thatappeared to be a missense variant‌
Taiga
Aoki1, Mutsumi Akaishi2, Arisa Igarashi1, Kumiko Yanagi1, Takaya Iida1, Tomomi Hidai1,
Nana Kobayashi1, Yukimi Abe1, Kazuhito Satou1, Hiroki Yonemoto2, Yoichi Matsubara1,
Takashi Kaname1
1
2

P2-09-28‌Departmentof Genome Medicine, National Center for Child Health and Development, Japan‌Department of Neonatology, Maternal and Perinatal Care Center, Oita Prefectural Hospital, Japan

Diagnostic Yield of Whole Genome Sequencing in 210 Undiagnosed Patients
Suspected of Rare Genetic Disorders‌Khunton Wichajarn1,2, Aree Rattanathongkom1,2, Kanda Sornkayasit2
12‌Divisionof Medical Genetics, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Thailand‌Center of Excellent in Precision Medicine, Srinagarind Hospital, Khon Kaen University, Thailand

Poster Session 2-10
Date

Ethical, Legal and Social Implications：Friday, October 13, 2023

P2-10-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Preliminary study to develop a guide for genomic medicine and research press
releases‌Misaki Arakawa, Fuji Nagami
Tohoku University, Japan

P2-10-2

Japanese Translation of the International Genetics Literacy and Attitudes Survey(iGLAS)‌
Akiko
Yoshida1,2, Tomoharu Tokutomi1,2, Akimune Fukushima1,2, Robert Chapman3, Fatos Selita3,
Yulia Kovas3, Makoto Sasaki1
1
2
3

‌
Iwate
Tohoku Medical Megabank Organization, Iwate Medical University, Japan‌Department of Clinical Genetics, School of Medicine, Iwate Medical University, Japan‌Department of Psychology, Goldsmiths, University of London, UK

129

P2-10-3

The balance between duty and death: Thanatophoric dysplasia a case of a lethal
congenital malformation‌Rendz Mark Tuazon, Marie Julianne Racoma, James Albert Edward Benitez, Glenn Tolentino
Bataan General Hospital and Medical Center, Philippines

P2-10-4

Needs survey for materials to obtain informed assents from children participating inwhole-genome analysis research‌Tomoko Kobayashi1, Atsushi Asai2
1
2

P2-10-5‌
TohokuMedical Megabank Organization (ToMMo), Tohoku University, Japan‌Department of Medical Ethics, Tohoku University, Japan

Policies for the protection of genetic information in Korea and implications for Japan～ Focusing on Ethical Issues‌Hyunsoo Hong, Ayako Kamisato, Kazuyo Arisawa, Yoshiko Takahashi
The University of Tokyo,The Institute of Medical Science, Division of Bioethics, Japan

Poster Session 2-11
Date

Databases / Data sharing / Biobank：Friday, October 13, 2023

P2-11-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

JOB:Japan Omics Browser provides integrative visualization of multi-omics data‌Yugo Takahashi1, Qingbo Wang2, Yukinori Okada2,3,4, Japan COVID-19 Task Force
12
3
4

P2-11-2‌Osaka
University Faculty of Medicine, Suita, Japan‌Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan‌Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan‌Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan

Study towards utilization of intractable disease patient data by data linkage between
Shouman and Nanbyo DBs in Japan‌Chisato Yamasaki1, Saburo Takatsu1, Akinori Moriguchi2, Ryuichi Sakate1
1
2

P2-11-3‌National
Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN), Japan‌National Center for Child Health and Development (NCCHD), Japan

TogoVar 2023: Enhancement and update of publicly available variant data incollaboration with genome projects in Japan‌
Nobutaka
Mitsuhashi1, Toshiaki Katayama1, Minae Kawashima1, Licht Toyo-Oka2, Yuki Moriya1,
Shuichi Kawashima1, Toshihisa Takagi2
1
2

P2-11-4‌Research
Organization of Information and Systems, Japan‌Toyama University of International Studies, Japan

The issues of each database and ontology from the viewpoints of clinicians‌Eisuke Dohi1, Yuka Tateishi2, Jae-moon Shin3, Toyofumi Fujiwara3, Yasunori Yamamoto3
1
2
3

P2-11-5‌National
Center of Neurology and Psychiatry, Japan‌Japan Science and Technology Agency Department of NBDC Program, Japan‌Research Organization of Information and Systems, Database Center for Life Science, Japan

Enhancing Clinical Genetic Analysis through the Medical Genomics Japan Variant
Database (MGeND)‌YosukeKawai1, Kazuko Ueno1, Mayumi Kamada2, Kenjiro Kosaki3, Yasushi Okuno2,
Katsushi Tokunaga1
1
2
3

‌
National
Center for Global Health and Medicine, Japan‌Kyoto University, Japan‌Keio University School of Medicine, Japan130

P2-11-6

Investigate the differences in the questionnaires used by each NC in the National
Centre Biobank Network‌Yukiko Nakashima1, Satoshi Suzuki2, Tatsuya Kanto1, Masaya Sugiyama1
12‌Kohnodai
Hospital, Japan‌Center Hospital, Japan

Poster Session 2-12
Date

Genetic Counseling in Asia 2：Friday, October 13, 2023

P2-12-1

18:10 ～ 18:40

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Survey on requests for information on prenatal testing in Japan‌
Tatsuko
Hirose1,2, Shin Ikebukuro2, Keiko Miyagami2, Takahiro Yamada3, Osamu Samura4,
Haruhiko Sago5, Akihiko Sekizawa2, Nahoko Shirato2
1
2
3
4
5

P2-12-2‌Showa
University Graduate School of Health Sciences, Japan‌Department of Obstetrics and Gynecology, Showa University School of Medicine, Japan‌Division of Clinical Genetics, Hokkaido University Hospital, Japan‌Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Japan‌Center for Medical Genetic, National Center for Child Health and Development, Japan

Family trees created during busy outpatient work in a hospital having no specialized
department of clinical genetics‌Koji Kumagai, Masahiro Sakai
Osaka Railway Hospital, Japan

P2-12-3

The group clinic for babies with Down syndrome and their families at SCMC: Annual
report of 2022
‌MiwakoKizumi, Yuki Sawada, Miwa Kobayashi, Daiju Oba, Mariko Sagara, Sayuri Oda,
Miyu Fukushima, Kenta Hasumi, Hirofumi Ohashi
Saitama Children's Medical Center, Japan

P2-12-4

Survey highlights in 2022: The Japanese Association of Certified Genetic Counselors
Biennial Survey‌Nana
Akiyama, Manami Matsukawa, Ayumi Abe, Momoko Kato, Mikiko Kaneko, Mari Kikuchi,
Sawako Matsuzaki, Mami Morita, Saki Shimada, Eriko Takamine, Asuka Toshida, Mari Tsubata,Junko Yotsumoto
The Japanese Association of Certified Genetic Counselors Survey and Research Committee, Japan

P2-12-5

Genetic counseling for a hereditary pancreatic cancer patient with PALB2 mutation‌Eri Sakai1, Chie Ono1, Haruka Bamba1, Kenjiro Kimura2, Masakazu Yashiro3
1
2
3

P2-12-6‌Departmentof Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan‌Department of Hepato-Biliary-Pancreatic Surgery, Osaka Metropolitan University Graduate School of Medicine,
Osaka, Japan‌Department of Molecular Oncology and Therapeutics, Osaka Metropolitan University Graduate School of
Medicine, Osaka, Japan

Role of genetic counselors in oncofertility in Japan: A Nationwide survey‌
Yuko
Tamaki1, Yukiko Katagiri1, Kumiko Oseto2, Yukiko Yoshimoto3, Sanae Numata4, Kuniaki Ota5,
Akemi Kataoka6, Seido Takae7, Nao Suzuki7
1
2
3
4
5
6
7

‌
Departmentof Obstetrics and Gynecology, Toho University Omori Medical Center, Japan‌KONICA MINOLTA REALM, INC.Business Planning & Strategy Division, Japan‌Department of Breast Surgery, Kitano Hospital, Japan‌Department of Cancer Center / Genetic Division, Kurume University Hospital, Japan‌Department of Obstetrics and Gynecology, Tokyo Rosai Hospital, Japan‌Department of Surgical Oncology, Breast Oncology Center, Cancer Institute Hospital of the JapaneseFoundation for Cancer Research, Japan‌Department of Obstetrics and Gynecology, St. Marianna University School of Medicine, Japan

131

P2-12-7

A FAP patient and his family dynamics and psychological care : An approach from theFamily Image Technique (FIT)‌
Sayuri
Hiraoka1,2,3, Akiko Kameyama3, Makiko Dazai4,5, Kokichi Sugano2, Takeshi Yamada1,
Kenji Kameguchi6
1
2
3
4
5
6

P2-12-8‌Divisionof Clinical Genetics, Nippon Medical School Hospital, Japan‌Department of Genetic Medicine, Sasaki Foundation, Kyoundo Hospital, Japan‌Department of Clinical Psychology, International University of Health and Welfare, Japan‌Specified Nonprofit Corporation HBOC Patients Association Clavis Arcus, Japan‌Genetic Alliance JP, Japan‌The University of Tokyo, Japan

Genetic counseling on at-risk individuals of Spinocerebellar ataxia: A single institutionbased study‌Akiko Sakyu1, Katsuya Nakamura1,2, Emiko Kise1,3, Tomomi Kojima1, Tomoki Kosho1,4,5
1
2
3
4
5

P2-12-9‌Centerfor Medical Genetics, Shinshu University Hospital, Japan‌Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan‌Department of Nursing, Shinshu University Hospital, Japan‌Department of Medical Genetics, Shinshu University School of Medicine, Japan‌Division of Clinical Sequencing, Shinshu University School of Medicine, Japan

The issues of prenatal genetic counseling for foreigners in Japan‌Miyako Mizukami1,2
1
2

P2-12-10‌SapporoMaternity Women's Hospital, Japan‌Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Japan

Genetic counseling for a patient with Mitochondrial myopathy and ataxia‌Kazumi Kawato, Yuiko Hasegawa, Nobuhiko Okamoto
Osaka Women's and Children's Hospital, Izumi, Osaka, Japan

Poster Session 3-01
Date

Complex Diseases and Genomic Risk Assessment 3：Saturday, October 14, 2023

P3-01-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Three cases of Cowden's syndrome/ PTEN Hamartoma Tumor Syndrome: Threedifferent clinical courses to reach the diagnosis‌
Ryuta
Takase1, Kaori Fukui1, Naoya Tsumura1, Ken Kato1, Munetsugu Hara1, Tatsuki Mizuochi1,
Tomoya Sudo1, Yoriko Watanabe1,2
1
2

P3-01-2‌
KurumeUniversity School of Medicine, Japan‌Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Japan

IL-1 beta gene polymorphisms and the susceptibility of hepatitis C infection in Malay
male drug abusers‌
Ruzilawati
Abu Bakar1, Jalviana Lansayan1, Nur Salwani Bakar1, Ismail Che Noh1,2,Abdah Karimah Che Md Nor1, Imran Ahmad1
1
2

P3-01-3‌
Universiti
Sains Malaysia, Malaysia‌Universiti Malaysia Sabah, Malaysia

Utility of genetic analysis for dilated phase of hypertrophic cardiomyopathy, a high-riskgroup‌Natsuko Inagaki1, Takeharu Hayashi2, Shinji Suzuki1, Yasuyoshi Takei1, Akinori Kimura3
1
2
3

P3-01-4‌Tokyo
Medical University, Japan‌Tokai University School of Medicine, Japan‌Medical Research Institute Tokyo Medical and Dental University, Japan

A balanced de novo t(2;3)(q31;p13) disrupting ATXN7 in a spinocerebellar ataxia
young man‌Kai Yan, Fan Jin, Minyue Dong
Department of Reproductive and Genetics, Women's Hospital, School of Medicine, Zhejiang University, China132

P3-01-5

Polygenic risk scores, lifestyle factors, and risk of carotid atherosclerosis‌Liao Li-Na
Department of Public Health, China Medical University, Taiwan

P3-01-6

Long-term impacts of childhood maltreatment: A mendelian randomization study‌Nicole Ng1, Jane Zhao2, Christopher Mak1, Brian H.Y. Chung1
12

P3-01-7‌Departmentof Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The
University of Hong Kong, Hong Kong
‌School of Public Health, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong

Gaining insights into genetic variation underlying non-immune hydrops fetalis throughtrio exome sequencing‌Patrick
Yap1,2, Chew Jasmine1,3, Heller Raoul2, Jenny Eaton2, Monique Stein de-Laat4,
Candice Feben2, Mark Greenslade3, Peter Tsai1, Cristin Print1, Polona Le Quesne-Stabej1
12
34P3-01-8‌Facultyof Medicine and Health Sciences, University of Auckland, New Zealand‌Genetic Health Service New Zealand (Northern Hub), New Zealand‌Dignostic Genetics, LabPlus, New Zealand‌Maternal-Fetal Medicine Services, Auckland District Health Board, New ZealandMulti-ancestry GWAS of Fuchs endothelial corneal dystrophy in US veterans highlights
roles of laminins and collagen‌
MichaelFrancis1,2, Bryan Gorman1,2, Cari Nealon3, Christopher Halladay4, Nalvi Duro1,2,
Kyriacos Markianos1, Giulio Genovese5,6,7, Pirro Hysi8,9,10, United States Veterans Affairs Million
Veteran Program, Paul Greenberg11,12, Saiju Pyarajan1, Jonathan Lass13, Neal Peachey14,15,16,
Sudha Iyengar14,17,18
1 ‌Center for Data and Computational Sciences (C-DACS),VA Boston Healthcare System, Boston, MA, USA
2 ‌Booz Allen Hamilton, McLean, VA, USA
3 ‌Eye Clinic, VA Northeast Ohio Healthcare System, Cleveland, OH, USA
4 ‌Center of Innovation in Long Term Services and Supports, Providence VA Medical Center, Providence, RI, USA
5 ‌Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6 ‌Stanley Center, Broad Institute of MIT and Harvard, Cambridge, MA, USA
7 ‌Department of Genetics, Harvard Medical School, Boston, MA, USA
8 ‌Department of Ophthalmology, King’s College London, London, UK
9 ‌Department of Twins Research and Genetic Epidemiology, King’s College London, London, UK
10 ‌UCL Great Ormond Street Hospital Institute of Child Health, King’s College London, London, UK
11 ‌Ophthalmology Section, Providence VA Medical Center, Providence, RI, USA
12 ‌Division of Ophthalmology, Alpert Medical School, Brown University, Providence, RI, USA
13 ‌Department of Ophthalmology and Visual Sciences, Case Western Reserve University, Cleveland, OH, USA
14 ‌Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA
15 ‌Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA
16 ‌Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University,
Cleveland, OH, USA
17 ‌Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA
18 ‌Department of Population and Quantitative Health Sciences, Case Western Reserve University School of
Medicine, Cleveland, OH, USA

P3-01-9Case report: Spinocerebellar ataxia type 8 and 31‌Risa
Goto1, Ayako Miyazaki1,2, Chiho Okada1, Chinatsu Kinjo1, Mina Kashima1, Mikako Miyata1,
Mako Ueda1,3, Hideaki Sawai1,3
1
2
3

‌
Departmentof Clinical Genetics, Hyogo Medical University Hospital, Japan‌Department of Clinical Laboratory Medicine, Hyogo Medical University Hospital, Japan‌Department of Obstetrics and Gynecology, Hyogo Medical University Hospital, Japan

133

P3-01-10

RNF213 p.Arg4810Lys heterozygote is associated with early onset and bilateral
cerebrovascular events in Moyamoya disase‌
SatoruMiyawaki1, Daiichiro Ishigami1, Hideaki Imai2, Masahiro Shimizu3, Hiroki Hongo1,
Shogo Dofuku1, Kenta Ohara1, Yu Teranishi1, Daisuke Shimada4, Satoshi Koizumi1, Hideaki Ono5,
Yudai Hirano1, Masafumi Segawa1, Hirofumi Nakatomi4, Nobuhito Saito1
1
2
3
4
5

P3-01-11‌Departmentof Neurosurgery, Faculty of Medicine, The University of Tokyo, Japan‌Department of Neurosurgery, JCHO Tokyo Shinjuku Medical Center, Japan‌Department of Neurosurgery, Kanto Neurosurgery Hospital, Japan‌Department of Neurosurgery, Kyorin University, Japan‌Department of Neurosurgery, Fuji Brain Institute and Hospital, JapanThe current status and Issues of genetic counseling and testing with Inherited cardiac
arrhythmias at our hospital‌MarikoKomine1, Yusuke Ebana1,2, Tetsuro Sasano3, Hiroko Kobata2, Sayako Takahashi1,
Masayuki Yoshida1,2
1
2
3

P3-01-12‌Tokyo
Medical and Dental University Hospital the Department of Genetic Medicine, Japan‌Tokyo Medical and Dental Uninersity the Life Science and Bioethics, Japan‌Tokyo Medical and Dental Uninersity Hospital the Department of Cardiovascular Medicine, Japan

Genomic foundation of sensorineural hearing loss‌June-Young
Koh1, Sang-Yeon Lee2,3,4, Seungbok Lee2,5, Seongyeol Park1, Sung Ho Jung3,
So Min Lee3, Won Hoon Choi3, Yejin Yun3, Ju Hyuen Cha3, Hongseok Yun2, Myung-Whan Shu3,
Moo Kyun Park3, Jae-Jin Song6, Byung Yoon Choi6, Jun Ho Lee3, Seung Ha Oh3
1
2
3
4
5
6
7

P3-01-13‌GENOME
INSIGHT‌Department of Genomic Medicine, Seoul National University Hospital, Seoul, South Korea‌Department of Otorhinolaryngology, Seoul National University College of Medicine, Seoul National University
Hospital, Seoul, South Korea‌Sensory Organ Research Institute, Seoul National University Medical Research Center, South Korea‌Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's
Hospital, Seoul, South Korea‌Department of Otorhinolaryngology, Seoul National University College of Medicine, Seoul National University
Bundang Hospital, Seongnam, South Korea‌Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology,
Daejeon, South Korea

Preoperative genetic testing impacts decision-making for risk-reducing mastectomy inbreast cancer patients‌Chanchira Sriraksasin, Prasit Phowthongkum
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Thai Red Cross
Society, Bangkok, Thailand

P3-01-14

The first case of segmental UPD of chromosome 7 not involving MEST in a patient with
Silver-Russell syndrome features‌Da Hye Lee1, Jung Min Ko2, Jee-Soo Lee3,4, Moon‑Woo Seong3,4, Jae Hyeon Park3
1
2
3
4

‌
Departmentof Pediatrics, Chung-Ang University Hospital, Seoul, Republic of Korea‌Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea‌Department of Laboratory Medicine, Seoul National University Hospital, Republic of Korea‌Department of Laboratory Medicine, Seoul National University College of Medicine, Republic of Korea

Poster Session 3-02
Date

Inherited Metabolic Diseases and Newborn Screening 3：Saturday, October 14, 2023

P3-02-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Neonatal Screening for SCID: The Taiwan Experience‌Yu-Han Chen1, Li-Wen Hsu1, Shu-Chuan Chiang1, Yin-Hsiu Chien Chien1,2
12‌
Departmentof Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan‌Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan

134P3-02-2

A Content analysis of Facebook Groups on congenital adrenal hyperplasia‌
Ma-Am
Joy Tumulak1, Peter James Abad1, Rizza Kaye Cases2, Bubbles Beverly Asor2,
Cheryll Magbanua-Calalo1, Ebner Bon Maceda1, Kia Anarna1, Renchillina Joy Supan2,
Patricia Carla Asuncion1, Theodore Delfin Vesagas1
1
2

P3-02-3‌
Universityof the Philippines, Manila, Philippines‌University of the Philippines Diliman, Philippines

The impact of storage conditions on the concentrations of screening markers innewborn dried blood spots‌Li-Chu Chen1, Chen-Chen Liu1, Chin-Ting Liu1, Yin-Hsiu Chien1,2
1
2

P3-02-4‌Departmentof Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan‌Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan

Neonates in non-mosaic Klinefelter syndrome: A systematic review and meta-analysis‌
Reina
Kuraki1, Keiko Goto2, Yuri Kitamura2, Ippei Hiramatsu3, Hiromasa Goto4, Eri Shimizu2,
Anna Sato2, Fumi Murakami2, Motoko Watanabe2, Miho Isaka2, Masami Arai212
34

P3-02-5‌DegreeProgram in Clinical Genetics (Genetic Counseling), Juntendo University Graduate School of Medicine,Japan‌Department of Clinical Genetics, Juntendo University, Japan‌Department of Urology, Juntendo University, Graduate School of Medicine, Japan‌Department of Metabolism & Endocrinology Medicine, Juntendo University, Graduate School of Medicine,Japan

An intronic variant of SLC6A8 identified functionally critical residues of the creatinetransporter‌Toshiki Tsunogai1, Eri Imagawa1, Thomas P Naidich2, Nicola Longo3, Kimihiko Oishi1
1
2
3

P3-02-6‌Departmentof Pediatrics, The Jikei University School of Medicine, Japan‌Department of Radiology, Icahn School of Medicine at Mount Sinai, USA‌Division of Medical Genetics, Department of Pediatrics, University of Utah, USA

Molecular relevance of citrullinemia type II and liver cancer‌Phuong Thanh Nguyen1,2, Ituro Inoue1
1
2

P3-02-7‌Laboratoryof Human Genetics, National Institute of Genetic, Japan‌Department of Genetics, The Graduate University for Advanced Studies (SOKENDAI), Japan

Attenuated MPS II detected by newborn screening whose treatment was discontinued
based on family genetic test
‌Yoko Nakajima, Katsuyuki Yokoi, Yuta Sudou, Yasuaki Yasuda, Tetsushi Yoshikawa, Tetsuya Ito
Fujita Health University School of Medicine, Japan

Poster Session 3-03
Date

Prenatal Genetics 3：Saturday, October 14, 2023

P3-03-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

A case report of incidental finding of confirmed placental mosaicism (CPM) for prenatal
diagnosis of Hunter syndrome‌
HiroakiNakamura, Yoshiko Matsuda, Michiko Watanabe, Sakika Yanai, Hiroko Katayama,
Sachiyo Nishimoto, Rintaro Abe, Yuko Araki, Naoki Yamada, Kazuki Tanimura, Hiroko Akaishi,
Kenji Yoshimura, Jun Mori, Shinji Higuchi
Department of Genetic Medicine, Osaka City General Hospital, Japan135

P3-03-2

A case of trisomy 13 false positive of NIPT in a pregnant woman who had a history oftrisomy 13‌Yuuka
Abe1, Shin Onota4, Akiyo Onota4, Shiya Kaori4, Kanami Saito3, Satoshi Kosugi3,
Satoshi Takakura3, Kohei Sugimoto1,2, Yoshinobu Hamada1,2
1
2
3
4

P3-03-3‌DokkyoMedical University Saitama Medical Center, Japan‌International Center for Reproductive Medicine, Dokkyo Medical University Saitama, Japan‌Obstetrics and Gynecology, Dokkyo Medical University Saitama Medical Center, Japan‌Onota Women's Clinic, Saitama Omiya, Japan

Development of a safer and simpler embryo biopsy for PGT-A‌AtsushiTanaka1, Youichi Takemoto1, Motoi Nagayoshi1, Yuya Makino1,2, Daisuke Nakajima1,3,
Seiji Watanabe4
12
34P3-03-4‌Saint
Mother Clinic, Japan‌Juntendo University School of Medicine, Japan‌Occupational and Environmental Health University School of Medicine, Japan‌Hirosaki University Graduate School of Medicine, Japan

Factors associated with high mental stress of pregnant women undergoing NIPT andchanges after genetic counseling‌ Takeda1, Nobuhiro Suzumori1, Kyoko Kumagai1, Iku Taguchi1,2, Kiwa Yamaoka1,3, Rin Sato1,3,
Eri
Ayako Tanabe1,4, Shinobu Goto1, Ayano Otani1, Mayumi Sugiura-Ogasawara1
1
2
3
4

P3-03-5‌NagoyaCity University, Japan‌National Hospital Organization, Nagoya Medical Center, Japan‌Nagoya Ekisaikai Hospital, Japan‌Toyota Memorial Hospital, Japan

Validation and clinicals case report in non-invasive prenatal testing for all
chromosomes‌Hyuk-Jung Kwon, Sam Martin
EDGC, Korea

P3-03-6

Withdrawn

P3-03-7Comparison of G-banding karyotyping and NGS for chromosome testing of products ofconception after spontaneous abortion‌Yoshie Nagatakidani1, Michiko Anmae2, Yoshiko Asai1, Tomoko Inoue1, Yoshiharu Morimoto1
1
2

P3-03-8‌
HORAC
GRAND FRONT OSAKA Clinic, Japan‌IVF Namba clinic, Japan

Pregnant women’s recent preferences for prenatal genetic testing: A single-center
study in Japan‌
Rina
Akaishi, Fuyuki Hasegawa, Yuuki Kakinuma, Chihiro Nishino, Taishuke Morita, Shin Mouri,
Saho Fujino, Yuuya Fujibe, Saori Unno, Jin Muromoto, Tomo Suzuki, Rika Sugibayashi,
Katsusuke Ozawa, Aiko Sasaki, Seiji Wada, Haruhiko Sago
National Center for Child Health and Development, Japan

P3-03-9

Risk figures of reciprocal translocation carriers with imbalanced blastocysts after
structural rearrangement testing‌TetsuakiHara1,2, Eimi Rai1, Takashi Kodama1, Keiko Hara1, Takahiro Miura1, Yoko Watanabe1,
Kanako Nishimura1, Aya Ueda1
12‌
Hiroshima
Prefectural Hospital, Japan‌Hiroshima Chuo-Dori Katsuki Ladies Clinic, Japan

136

P3-03-10

Efficiency of PGT-SR in chromosomally balanced translocation couples‌
Aya
Yamazaki1, Nami Kawasaki2, Tomoko Kuroda2, Keiichi Kato2, Toshiyuki Takeshita3,
Akira Kuwahara4, Takeshi Iwasa4, Minoru Irahara4, Toshiyuki Yamamoto1
1
2
34P3-03-11‌
Tokyo
Women's Medical University, Japan‌Kato Ladies Clinic, Japan‌Nippon Medical School Obstetrics and Gynecology, Japan‌Tokushima University Obstetrics and Gynecology, Japan

Two cases of trisomy13 positive in NIPT subsequently determined as CPM involving
trisomy13‌
MakikoTominaga1, Ayano Sakurai1, Ayumi Okuyama1, Mikiko Izumi2, Kiyotake Ichizuka1,
Akiko Sakashita1
1
2

P3-03-12‌Showa
University Northern Yokohama Hospital, Japan‌Showa University Hospital, Japan

Do treatment outcomes in ART without PGT-SR differ whether the translocation carrier
is male or female?
‌Eri Nakahara, Koyu Furuhashi, Shoji Kokeguchi, Eri Okamoto, Masahide Shiotani
Hanabusa Women’s Clinic, Japan

P3-03-13

Novel therapeutic approach for patients with Loss-of-function ACE‌Hang-Jing Tan1,2, Hong-Mei Xiao1,2
12‌Instituteof Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University,
Changsha, Hunan, China‌Centers of System Biology, Data Information and Reproductive Health, School of Basic Medical Science, Central
South University, Changsha, Hunan, China

Poster Session 3-04
Date

Neurology 3：Saturday, October 14, 2023

P3-04-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

A case of chromosome 1p36 deletion syndrome diagnosed using Chromosomal
Microarray Testing at Age 50‌Misako Kaido1,2,3, Takuhei Yokoyama1,4, Yuka Yotsumoto5,6, Tomoko Hashimoto-Tamaoki5,6
1
2
3
4
5
6

P3-04-2‌
SakaiCity Medical Center, Japan‌Department of Clinical Genetics, Sakai City Medical Center, Japan‌Department of Neurology, Sakai City Medical Center, Japan‌Department of Obstetrics and Gynecology, Sakai City Medical Center, Japan‌Takatsuki General Hospital, Japan‌Department of Genetic Medicine, Takatsuki General Hospital, Japan

Identification of a novel RAPSN variant and electrodiagnostic confirmation ofcongenital myasthenic syndrome‌Chinmayee Bhimarao Nagaraj1, Hani Kushlaf2
1
2

P3-04-3‌Cincinnati
Children's Hospital, USA‌University of Cincinnati, USA

RNA sequencing confirms the pathogenicity of a novel FHL1 deletion‌Chinmayee Bhimarao Nagaraj1, Cuixia Tian1,2, Hani Kushlaf1,2
1
2

P3-04-4‌Cincinnati
Children's Hospital, USA‌University of Cincinnati, USA

A retrospective chart review evaluating genetic testing approaches for patients withneuromuscular disorders‌Chinmayee
Bhimarao Nagaraj1, Amanda Rosenberg1,2, Hua He1, Elizabeth Ulm1, Kathleen Collins1,
1,2
Cuixia Tian
1
2

‌Cincinnati
Children's Hospital, USA‌University of Cincinnati, USA137

P3-04-5

Regular social events for interaction among patients/families with Fragile X syndrome
and Fragile X-Related disorders‌Tetsuya Okazaki1,2, Tomoki Nonaka2, Saki Shinzato3, Chisako Aoki4, Aya Yamamoto5, Kaori Adachi2,6,
Eiji Nanba2,6,7
1
2
3
4
5
6
7

P3-04-6‌
Tottori
University Hospital, Japan‌Division of Clinical Genetics, Tottori University Hospital, Japan‌Department of Pediatric Neurology, Graduate School of Medical Sciences, Tottori University, Japan‌Department of Medical Genetics, Kakogawa Central City Hospital, Japan‌Graduate School of Clinical Psychology, Sapporo Gakuin University, Japan‌Organization for Research Initiative and Promotion, Tottori University, Japan‌Otani Hospital, Japan

Knowledge, awareness and perception on genetic testing among parents ofneuromuscular disorders patients in Malaysia‌FarheenHakim Zada1, Ahmad Hazim Syakir Ahmad Azahari1, Sau Wei Wong1, Adli Ali1,2,
Noor Akmal Shareela Ismail2,31
2
3P3-04-7‌Departmentof Pediatric, Faculty of Medicine, Universiti Kebangsaan Malaysia, Malaysia‌Research Centre, Hospital Tunku Ampuan Besar Tuanku Aishah Rohani, UKM Specialist Children’s Hospital,
Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Cheras, Kuala Lumpur, Malaysia‌Department of Biochemistry, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Cheras,
Kuala Lumpur, Malaysia

Recurrent rhabdomyolysis and persistent elevated creatine kinase in a medical cadet
during medical training: A case report‌Sethapong Lertsakulbunlue1, Boonsub Sakboonyarat2, Boonchai Boonyawat3, Tim Phetthong312
3

P3-04-8‌Departmentof Pharmacology, Phramongkutklao College of Medicine, Bangkok, Thailand‌Department of Military and Community Medicine, Phramongkutklao College of Medicine, Bangkok, Thailand‌Division of Medical Genetics, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine,
Bangkok, Thailand

Patient registry system for new treatment choice and newborn screening follow-up in
spinal muscular atrophy‌Tamaki Kato, Yumi Ikeda, Mamoru Yokomura, Mari Urano, Akiko Ueda, Kayoko Saito
Tokyo Women's Medical University, Japan

Poster Session 3-05
Date

Technological Advances, Wet and Dry 3：Saturday, October 14, 2023

P3-05-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Comprehensive gene expression analysis during repression of the transcriptional
regulator Zfat in mouse fetal liver‌Keiko Doi, Midori Koyanagi, Yoko Tanaka
Faculty of Medicine, Fukuoka University, Japan

P3-05-2

Withdrawn

P3-05-3

Development of a clinically applicable one-step PCR-based CYP21A2 analysis using
long read sequences‌
Eriko
Adachi1, Ryuichi Nakagawa1, Atsumi Tsuji-Hosokawa1, Maki Gau1, Shizuka Kirino1,
Analia Yogi1, Hisae Nakatani1, Tomomi Yamaguchi2, Masanori Murakami3, Toshihiro Tajima4,
Tomonobu Hasegawa5, Tetsuya Yamada3, Tomohiro Morio1, Osamu Ohara6, Kenichi Kashimada1
1
2
3
4
5
6

‌
Tokyo
Medical and Dental University, Japan‌Department of Medical Genetics, Shinshu University School of Medicine, Japan‌Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Japan‌Department of Pediatrics, Jichi Medical University, Japan‌Department of Pediatrics, Keio University, School of Medicine, Japan‌Department of Applied Genomics, Kazusa DNA Research Institute, Japan

138

P3-05-4

Establishment of a novel genotyping method for the double homeobox protein 4 (DUX4)
gene‌
ZhuangZhaohui1, Mahoko Ueda1, Kensuke Yamaguchi2, Nao Nishida1, Satomi Mitsuhashi1,
Yuta Kochi1
1
2

P3-05-5‌Departmentof Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental
University, Japan‌Biomedical Engineering Research Innovation Center, Institute of Biomaterials and Bioengineering, Tokyo
Medical and Dental University, Japan

Structural analysis and prediction of pathogenicity in MLH1 variants using homology
modeling‌Mirei Tsuchiyama, Kazuo Tamura, Norihito Kawashita
Kindai University, Japan

P3-05-6

Simulation of P-values for association tests and consideration for GWAS power
imbalance‌Takashi Kido1, Naoyuki Kamatani2
1
2

P3-05-7‌TeikyoUniversity, Japan‌StaGen Co., Ltd., Japan

Small Cajal body-specific RNA: Regulatory function in Alzheimer's disease‌Sumin Yang, Sung-Hyun Kim, Eunjeong Yang, Jae-Yeol Joo
Hanyang University, Korea

P3-05-8

Full-length total RNA sequencing reveals the fraction of cell free RNA in spent embryo
culture media‌Takeshi Sugimoto1,2, Tasuku Mariya2,3, Hiroki Kurahashi2
1
2
3

P3-05-9‌KobeMotomachi Yume Clinic, Japan‌Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan‌Department of Obstetrics and Gynecology, School of Medicine, Sapporo Medical University, Japan

Construction of quality-controlled genetic testing system for cardiovascular disease‌Kaori Kugo, Yohei Miyashita, Rieko Osawa, Yoshiyuki Sumita, Koji Takata, Yoshihiro Asano
National Cerebral and Cardiovascular Center Hospital, Japan

P3-05-10

Unraveling the diversity of lncRNAs in cancer: Spatial and Single-cell profiling acrosstumor types‌Prakrithi Pavithra1,2,3, Tuan Vo2, Ishaan Gupta3, Quan Nguyen2
12
3

P3-05-11‌
Universityof Queensland - IIT Delhi Academy of Research (UQIDAR), Hauz Khas, New Delhi, India‌University of Queensland, Institute of Molecular Biosciences, St. Lucia, QLD, Australia‌Indian Institute of Technology Delhi, Department of Biochemical Engineering and Biotechnology, Hauz Khas,
New Delhi, India

Chromosome-wide assessment of skewed X-inactivation by parental phasing andmethylome analysis using Nanopore sequencing‌
MasayukiSato1, Toshiki Takenouchi2, Hisato Suzuki1,3, Mamiko Yamada1, Kenjiro Kosaki1,
Fuyuki Miya1
12
3

P3-05-12‌Centerfor Medical Genetics, Keio University School of Medicine, Tokyo, Japan‌Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan‌Department of Clinical Medicine, Institute of Medicine, University of Tsukuba, Tokyo, Japan

Therapeutic potential of chemically-modified microRNA143 lipoplex for refractory
cancer‌
Kohei
Taniguchi1, Jun Arima1, Hiromitsu Tsuchihashi1, Tomohito Tanaka1, Sang-Woong Lee1,
Yukihiro Akao2
1
2

‌
Osaka
Medical and Pharmaceutical University, Japan‌Gifu University, Japan139

Poster Session 3-06
Date

Cancer Genomics, Germline 3：Saturday, October 14, 2023

P3-06-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Risk-reducing salpingo-oophorectomy in BRCA variant carriers: An experience at theregional university hospital‌Kentaro Kai1, Yoko Aoyagi1, Masakazu Nishida1, Nobue Tsukatani2, Kenji Ihara2, Eiji Kobayashi1
1
2

P3-06-2‌Departmentof Obstetrics and Gynecology, Oita University Faculty of Medicine, Japan‌Division of Genetic Medicine, Oita University Hospital, Japan

Frequency of secondary findings using CGP especially in childhood, adolescent andyoung adult-onset cancer‌Yoshinaga
Okugawa, Ryo Hanaki, Takhito Kitajima, Takumi Fujiwara, Junya Tsuboi, Emi Teramoto,
Maki Nakamura, Makoto Ikejiri, Kanako Nishikawa, Ikuyo Mochiki, Ryotaro Hashizume,
Hiroshi Imai, Kaname Nakatani, Yuji Toiyama
Mie University Hospital, Japan

P3-06-3

Regional collaboration in hereditary tumors‌MegumiMatsumoto1, Mami Takao2, Aya Tanaka2, Shoko Miura2, Yuri Hasegawa2,
Kenichiro Shibata1, Hideki Taniguchi1, Kiyonori Miura2
1
2

P3-06-4‌Japasene
Red Cross Nagasaki Genbaku Hospital, Japan‌Nagasaki University Hospital, Japan

Elucidation of genetic factors in pancreatic cancer by integration of molecularpathology and genomic epidemiology‌
KodaiAbe, Minoru Kitago, Yohei Masugi, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki,
Yuko Kitagawa
Keio University School of Medicine, Japan

P3-06-5

Genetic analysis in preventive medicine and following medical management‌HisatoSuzuki1, Ohsuke Migita2, Miwa Arita1, Ayumi Shikama1, Hiroko Bando1, Kazuhiro Takekoshi1,
Hideo Suzuki1, Toshiaki Narasaka1
1
2

P3-06-6‌
Universityof Tsukuba, Japan‌St.Marianna University, JapanThe system of regional collaboration for HBOC treatment at our hospital and its issues‌Yukiko Yoshimoto, Ai Itagaki, Tsuyoshi Tachibana, Sachiko Takahara
Kitano Hospital, Japan

P3-06-7

Rethinking the optimal age to consider RRSO in HBOC
‌
YusakuUrakawa1,2, Mashu Futagawa1, Sayaka Ueno1, Fumino Kato1, Reimi Sogawa1,
Hideki Yamamoto1, Akira Hirasawa1
1
2

P3-06-8‌Okayama
University, Japan‌Kobe City Medical Center General Hospital, Japan

Two cases of BRCA1/2 double mutation in patients with breast cancer‌SachikoMiyazaki1,2,3, Yumi Tanaka3, Maiko Shiga2, Kentaro Suda3, Miyako Mizukami3,
Tasuku Mariya3,4, Aki Ishikawa1,2,3, Akihiro Sakurai1,2,3
1
2
3
4

P3-06-9‌SapporoMedical University, Japan‌Department of Medical Genetics and Genomics School of Medicine Sapporo Medical University, Japan‌Division of Medical Genetics and Genomics of Sapporo Medical University Hospital, Japan‌Division of Gynecology of Division of Sapporo Medical University, Japan

Comparison of survival rates of ovarian cancer patients inherited from first- and nonfirst-degree relatives‌Rachadapan Chaitosa
Gynecology Oncology, Thailand140

P3-06-10

The family with high penetrance of glioblastoma in Lynch syndrome‌
HirokoFujita1, Kazuo Tamura1,2,3, Akira Hirasawa1,4, Hideki Yamamoto1,4, Yusaku Urakawa4,
Mashu Futagawa4, Shohei Kohno1, Ayako Ito1, Haruka Tada1, Tami Nagatani1, Kyohei Kai1
12
34P3-06-11‌
Japanese
Red Cross Society Himeji Hospital, Japan‌Kindai University, Japan‌Sakurabashi-Watanabe Hospital, Japan‌Okayama University, Japan

A case of Lynch syndrome with strong familial cancer history that was difficult todiagnose due to hematological disease‌Tomomi Oka1,3, Takeshi Nakajima1,4, Masako Torishima1,5, Akiko Yoshida1,5, Hiromi Murakami1,
Sayaka Honda1, Akira Inaba1, Hidenori Kawasaki1,5, Masanobu Ogawa1,6, Takahito Wada1,5,
Yasuhito Nanya2,7, Seishi Ogawa2,8,9, Akifumi Takaori-Kondo3, Shinji Kosugi1,5
1
2
3
4
5
6
7
8
9

P3-06-12‌Clinical
Genetics Unit, Kyoto University Hospital, Japan‌Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Japan‌Department of Hematology, Kyoto University Hospital, Japan‌School of Public Health, Medical Ethics and Medical Genetics, Graduate of School of Medicine, Kyoto University,Japan‌Department of Genomic Medicine, Graduate School of Medicine, Kyoto University, Japan‌Ethics Support Unit, Kyoto University Hospital, Japan‌Division of Hematopoietic Disease Control, The Institute of Medical Science, The University of Tokyo, Japan‌Institute for the Advanced Study of Human Biology (WPI ASHBi), Kyoto University, Japan‌Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden

Hereditary breast cancer in ramathibodi hospital: A retrospective study‌Kanin Sriudomporn1, Thanyachai Sura1, Wiriya Pipatsakulroj2, Atchara Tunteeratum1
1
2

P3-06-13‌Divisionof Medical Genetics and Molecular Biology, Department of Internal Medicine, Faculty of Medicine
Ramathibodi Hospital, Mahidol University, Thailand‌Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Thailand

Current situation of risk-reduction surgeries and surveillance for hereditary tumors‌Akimitsu
Yamada1, Mahato Sasamoto1, Masanori Oshi1, Mii Takatsuka2, Tomohiro Sakaguchi2,
Hiroko Kuriki2, Natsuko Kamiya3, Yuki Ogawara3, Kouichi Nagai3, Yumi Ishidera3,
Haruka Hamanoue2, Itaru Endo1
1
2
3

P3-06-14‌Department
of Breast Surgery, Yokohama City University Hospital, Japan‌Department of Clinical Genetics, Yokohama City University Hospital, Japan‌Department of Obstetrics and Gynecology, Yokohama City University Hospital, Japan

Genetic counselling as part of a multi-disciplinary team management for young breast
cancer patient with NF1‌Claudia Richard1, Sook-Yee Yoon1, Kiley Wei-Jen Loh2, Gaik-Siew Ch'ng3
1
2
3

P3-06-15‌Key
Genetics, Malaysia‌Penang Adventist Hospital, Malaysia‌Hospital Pulau Pinang, Malaysia

Current status of BRCA testing for breast cancer cases in our hospital‌Tomoi Sato
Niigata Prefectural Central Hospital, Japan

Poster Session 3-07
Date

Cancer Genomics, Somatic 2：Saturday, October 14, 2023

P3-07-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Identification of URST4 as a prognostic biomarker and therapeutic target for breast
cancer‌
NguyenHoa1, Atsushi Takano1,2, Bayarbat Tsevegjav1, Regina Mbugua1, Yohei Miyagi3,
Yataro Daigo1,2
1
2
3

‌
Shiga
University of Medical Science, Japan‌The University of Tokyo, Japan‌Kanagawa Cancer Center, Japan

141

P3-07-2

A case of overlapping lung and cervical cancer with SMAD4 gene mutation identified
by gene panel test‌
Masakazu
Nishida1, Kentaro Kai1, Yoko Aoyagi1, Yasushi Kawano1, Nobue Tsukatani2, Kenji Ihara2,
Eiji Kobayashi1
1
2

P3-07-3‌
Obstetrics
and Gynecology, Oita University, Japan‌Division of Genetic Medicine, Oita University Hospital, Japan

A case report from the blood-based comprehensive genomic profiling (CGP) test forsolid tumors‌TomokoSahara1, Sayuri Hiraoka1, Ikuno Kawabata1,3, Masafumi Toyoshima1,3, Hidehiko Miyake1,3,4,
Hiroyuki Takei4, Hiroshi Yoshida2, Takeshi Yamada1,2
1
2
3
4
5

P3-07-4‌Divisionof Clinical Genetics, Nippon Medical School Hospital, Japan‌Department of Gastrointestinal Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Japan‌Department of Obstetrics and Gynecology, Nippon Medical School, Japan‌Department of Breast Surgery and Oncology, Nippon Medical School, Japan‌Departmen of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Japan

A novel biochemical valuable method for interpretation of variants of unknown
significance‌Yuji Kubo1, Misaki Iwasaka1, Yoichi Makino1, Hiroshi Ueno2, Kazuhito Tabata2, Hiroyuki Noji2
1
2

P3-07-5‌Technical
Research Institute, TOPPAN INC., Japan‌Department of Applied Chemistry, School of Engineering, The University of Tokyo, Japan

Usefulness of cancer genome medicine using cancer gene panel for advanced uterine
leiomyosarcoma‌Takuma Hayashi, Ikuo Konishi
Dept. of Cancer Medicine, National Hospital Organization Kyoto Medical Center, Japan

P3-07-6

Monitoring residual disease using cell free DNA in pediatric malignancies‌Mari
Kagajo1, Kyoko Moritani1, Mayumi Iwamoto1, Machiko Miyamoto1, Minenori Ishimae1,
Hisamichi Tauchi1, Yasushi Ishida2, Mariko Eguchi1
1
2

P3-07-7‌Departmentof Pediatrics, Ehime University Graduate School of Medicine, Japan‌Department of Medical Technology. Faculty of Health Sciences, Ehime Prefectural University of Health Sciences,
Japan

Translocation(8;21) AML–cytomorphological, immunophenotyping and cytogenetic
profile of three paediatric cases‌Farah Azima Abdul Muttlib1, Julia Mohd Idris2, Alia Suzana Asri1, Woon Lee Yong1
1
2‌Departmentof Laboratory Diagnostic Services Department UKM Specialist Children's Hospital (HPKK UKM)
National University of Malaysia, Kuala Lumpur, Malaysia‌Department of Laboratory Diagnostic Services Hospital Canselor Tuanku Muhriz National University of
Malaysia, Kuala Lumpur, Malaysia

Poster Session 3-08
Date

Pediatric Genetics 3：Saturday, October 14, 2023

P3-08-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

A case of autosomal dominant spastic paraplegia-9A (SPG9A) with a novel pathogenic
variant in ADLH18A1‌
Masaharu
Moroto1, Tomoya Yodoi2, Daisuke Uda2, Yoshihiro Nitta2, Takenori Tozawa3,
Tomohiro Chiyonobu3,4, Masafumi Morimoto3,5, Naoko Yano6, Takeshi Yoshida6
1
2
3
4
5
6

‌
Fukuchiyama
City Hospital, Japan‌Department of Pediatrics, Fukuchiyama City Hospital, Japan‌Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan‌Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural
University of Medicine, Japan‌Department of Medical Science, School of Nursing, Kyoto Prefectrural University of Medicine, Japan‌Department of Pediatrics, Kyoto University Graduate School of Medicine, Japan142

P3-08-2

Post-mortem whole exome analysis in sudden unexpected death in infancy andchildren‌
Rika
Kosaki1, Yoshiko Uchida4, Kumiko Yanagi2, Satoko Tsushima3, Satoko Uematsu4,
Tadashi Kaname2
1
2
3
4

P3-08-3‌National
Center for Child Health and Development, Japan‌Department of Genome Medicine, National Research Institute for Child Health and Development, Japan‌Department of Nursing, National Center for Child Health and Development, Japan‌Division of Pediatric Emergency and Transport Services, National Center for Child Health and Development,Japan

A phenotypical variation of a familial Noonan syndrome with RIT1 mutation diagnosedby next generation sequencing‌Kazuyoshi
Saito1, Arisa Kojima1, Takanori Suzuki1, Hidetoshi Uchida1, Tadayoshi Hata1,
Tetsushi Yoshikawa1, Satoru Kawai2
1
2

P3-08-4‌Departmentof Pediatrics, School of Medicine, Fujita Health University, Aichi, Japan‌Department of Cardiology, Aichi Children's Health and Medical Center, Aichi, Japan

Broad clinical spectrum and various diagnostic opportunities in patients with CoffinSiris syndrome‌
Kohei
Haraguchi1, Midori Motokawa1, Tatsuharu Sato1, Mami Takao2, Hiroyuki Mishima3,
Koh-ichiro Yoshiura3, Tatsuro Kondoh4, Hiroyuki Moriuchi1, Sumito Dateki1
1
2
3
4

P3-08-5‌Departmentof Pediatrics, Nagasaki University Hospital, Japan‌Department of Genetic Counseling, Nagasaki University Hospital Clinical Genomics Center, Japan‌Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan‌Division of Developmental Disabilities, Misakaenosono Mutsumi Developmental, Medical and Welfare Center,
Isahaya, Japan

Clinical features of individuals with Rauch-Steindl syndrome due to NSD2 pathogenic
variant‌Eriko Nishi1, Kumiko Yanagi2, Nobuhiko Okamoto1, Tadashi Kaname1,2
1
2

P3-08-6‌
Osaka
Women’s and Children’s Hospital, Japan‌National Research Institute for Child Health and Development, Japan

A case of NSD2 deletion requiring differential diagnosis from Silver-Russell syndrome‌Natsuki Nakamura1, Yuki Hashimoto2, Tomoko Uehara1, Mie Inaba1, Seiji Mizuno1
1
2

P3-08-7‌Aichi
Developmental Disability Center Central Hospital, Japan‌Ogaki Municipal Hospital, Japan

A novel FBN2 mutation in a patient with suspected in congenital contractual
arachnodactyly (CCA)‌Mina Nakama1,2, Yuki Miwa2, Sayaka Manabe1, Hidenori Ohnishi2
1
2

P3-08-8‌KindaiUniversity, Japan‌Gifu University, Japan

A neonatal case of triple X syndrome with hydrops fetalis due to congenital bilateralchylothorax‌Jun
Nirei1,2, Masako Hayashi1,2, Tomoyuki Tani1,2, Masato Tanaka1,2, Keisuke Shoji1,2,
Akira Kobayashi1,2, Akihiko Saitoh1
12‌Niigata
University Graduate School of Medicine, Japan‌General Center for Perinatal, Maternal, and Neonatal Medicine, Niigata University Medical and Dental Hospital,
Japan

143

P3-08-9

An infant case with chromosome 1p36 deletion syndrome accompanied by 7p22.1
microduplication‌Yuka Hattori1, Yuka Yotsumoto1,2, Maki Hamamoto1, Yoshinori Katayama3, Kenji Nakamura4,
Tomoko Tamaoki2
12
34

P3-08-10‌Departmentof Pediatrics, Takatsuki General Hospital, Japan‌Center for Clinical and Molecular Genetics, Takatsuki General Hospital, Japan‌Department of Neonatology, Takatsuki General Hospital, Japan‌Department of Neonatology, Japanese Red Cross Otsu Hospital, Japan

Clinical report of Pierson syndrome with biallelic variants in LAMB2‌YumikoNishimura1, Keiko Matsuda1, Yuiko Hasegawa1, Eriko Nishi1, Kazumi Kawato1, Kayo Inoue1,
Kumiko Yanagi2, Tadashi Kaname2, Nobuhiko Okamoto1
1
2

P3-08-11‌
Osaka
Women's and Children's Hospital, Osaka, Japan‌National Center for Child Health and Development, Tokyo, Japan

Intractable amenorrhea in a case of anorexia nervosa and diagnosis of exclusion bymolecular genetic analysis‌Naoko SatoThe University of Tokyo Hospital, Japan

P3-08-12

Nanopore long-read sequencing analysis of a triple translocation t(9;17;20) in apatient with congenital anomalies and developmental delay‌
Hiroaki
Murakami1,2, Tatsuya Sakashita1, Yumi Enomoto2, Kenji Kurosawa2, Atsushi Imamura1,
Hideo Kaneko1
1
2

P3-08-13‌
Gifu
Prefectural General Medical Center, Japan‌Kanagawa Children's Medical Center, Japan

Type 2 congenital generalized lipodystrophy by NOTCH2 variant‌TaichiImaizumi1, Rina Shimomura2,3, Osamu Machida2,3, Tomoe Yanagishita2,
Keiko Shimojima Yamamoto4,5, Miho Nagata6, Yasuki Ishihara6,7, Yohei Miyashita6,7,
Yoshihiro Asano6,7, Toshiyuki Yamamoto3,5
1
2
3
4
5
6
7

P3-08-14‌Departmentof Pediatrics, St. Marianna University School of Medicine, Japan‌Department of Pediatrics, Tokyo Women’s Medical University, Japan‌Division of Gene Medicine, Post-graduate School of Tokyo Women's Medical University, Japan‌Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University, Japan‌Institute of Medical Genetics, Tokyo Women's Medical University, Japan‌Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan‌Department of Genomic Medicine, National Cerebral and Cardiovascular Center, JapanA female patient of Weiss-Kruszka syndrome with 6 MB interstitial deletions of
9q31.1q32 including a whole ZNF462 gene‌Hironao Numabe1,3,4,5, Tomoko Takamatsu2,3, Noriko Miyake6
1
2
3
4
5
6

‌
Tokyo
Metropolitan Kita Medical Rehabilitation Center for the Handicapped, Japan‌Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, Japan‌Department of Pediatrics, Japan Community Health care Organization Tokyo Yamate Medical Center, Japan‌Department of Pediatrics, Tokyo Medical and Dental University Hospital, Japan‌Department of Pediatrics, National Rehabilitation Center for Children with Disabilities, Japan‌Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Japan

144

P3-08-15

Epidermolysis bullosa with congenital absence of skin in Thai infants: A molecular
genetics study‌
MaoleeBhuwapathanapun1, Sasitorn Aueviriyavit2, Panini Chetprayoon2,
Amornrat Tangprasittipap3, Rossukon Kaewkhaw1,4, Duangrurdee Wattanasirichaigoon5,
Natini Jinawath1,4,6
1
2
3
4
5
6

P3-08-16‌Programin Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok,
Thailand‌National Nanotechnology Center (NANOTEC), National Science and Technology Development Agency (NSTDA),
Pathum Thani, Thailand‌Office of Research, Academic Affairs and Innovations, Faculty of Medicine Ramathibodi Hospital, Mahidol
University, Bangkok, Thailand‌Chakri Naruebodindra Medical Institute, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bang
Phli, Samut Prakarn, Thailand‌Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol
University, Bangkok, Thailand‌Integrative Computational BioScience (ICBS) Center, Mahidol University, Nakhon Pathom, Thailand

Comparison of the diagnosis of 22q11.2 deletion and Williams syndrome by facial
photos between Face2gene and clinicians‌Nop Khongthon1, Midi Theeraviwatwong1, Khunton Wichajarn2, Kitiwan Rojnueangnit3
1
2
3

P3-08-17‌
MedicalStudents, Faculty of Medicine, Thammasat University, Pathumthani, Thailand‌Department of Pediatrics, Faculty of Medicine, Khon Kean University, Khon Kaen, Thaland‌Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand

Secular decrease in mosaicism in cultured and uncultured blood cells of six patientswith mosaic Down syndrome‌Takako Takano1,2, Tatsuo Masuyama2
1
2

P3-08-18‌
Departmentof Child Health, Tokyo Kasei University, Japan‌Department of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Children with Developmental
Disabilities, Japan

A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder‌
Rina
Shimomura1,2, Tomoe Yanagishita2, Kumiko Ishiguro2, Minobu Shichiji2, Takatoshi Sato2,
Keiko Shimojima Yamamoto3,4, Keiko Ishigaki2, Satoru Nagata2, Miho Nagata5, Yoshihiro Asano5,6,
Toshiyuki Yamamoto1,4
1
2
3
4
5
6

P3-08-19‌
Divisionof Gene Medicine, Graduate School of Medical Science, Tokyo Women’s Medical University, Japan‌Department of Pediatrics, Tokyo Women’s Medical University, Japan‌Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University, Japan‌Institute of Medical Genetics, Tokyo Women’s Medical University, Japan‌Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan‌Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Japan

Homozygous KCTD3 nonsense variant due to UPD associated with syndromic
developmental epileptic encephalopathy‌Toshiyuki Yamamoto1, Keiko Shimojima Yamamoto1,3, Ayumi Yoshimura2, Hitoshi Kanno3
12
3

P3-08-20‌
Instituteof Medical Genetics, Tokyo Women's Medical University, Japan‌Seirei Mikatahara General Hospital, Japan‌Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University, JapanA de novo KMT2E gene mutation in a patient with developmental delay : a case report‌Joo Hyun Park1, Ah Yeon Lee1, Myungshin Kim2, Seung Bin Lee3
1
2
3

‌
Departmentof Rehabilitation Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic Universityof Korea, Korea‌Department of Clinical Laboratory Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic
University of Korea, Korea‌Industry-Academic Cooperation Foundation, The Catholic University of Korea, Korea

145

P3-08-21

Nonsense mutation of methyl-CpG binding domain protein 5 (MBD5) gene with
developmental delay ; A two brothers cases‌Hye Jung Park1, Hogeon Namgung1, Myungshin Kim2, Seung Bin Lee3, Joo Hyun Park11
2
3P3-08-22‌Departmentof Rehabilitation Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic Universityof Korea, Korea‌Department of Clinical Laboratory Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic
University of Korea, Korea‌Industry-Academic Cooperation Foundation, The Catholic University of Korea, Korea

Transient erythroblastopenia by GATA1 variant in female‌
Masatoshi
Takagi1, Motoi Yamashita1, Takahiro Tomoda1, Takeshi Isoda1, Makiko Egawa2,
Masayuki Yoshida2, Tsutomu Toki3, Ko Kudou3, Kiminori Terui3, Etsuro Ito3, Tomohiro Morio1
1
2
3

P3-08-23‌
Departmentof Pediatrics and Developmental Biology, Tokyo Meidical and Dental University (TMDU), Japan‌Department of Nutrition and Metabolism in Cardiovascular Disease, Graduate School of Medical and Dental
Sciences, Tokyo Medical and Dental University (TMDU), Japan‌Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan

Shoulder dysfunction is an expanding phenotype of CHD7 disorder‌Tomoko Uehara, Natsuki Nakamura, Seiji Mizuno, Mie Inaba
Department of Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Aichi, Japan

P3-08-24

Early diagnosis of a case of Bardet–Biedl syndrome with severe obesity using wholegenome sequencing‌
Yuri
Kitamura1,2, Nobutomo Saito1,3, Naoya Saijyo4, Atsuo Kikuchi4,6, Shigeo Kure4,6,
Fumiki Katsuoka5, Akihito Otsuki5, Gen Tamiya6, Jun Takayama6, Akio Nakamura1, Kotoko Matsui1,
Yu Hosono1, Chiharu Miyayama1, Keiko Goto2, Masami Arai2, Toshiaki Shimizu1
1
2
3
4
5
6

P3-08-25‌Departmentof Pediatrics, Juntendo University Faculty of Medicine, Japan‌Department of Clinical Genetics, Juntendo University, Japan‌Department of Pediatrics, Asama General Hospital, Japan‌Department of Pediatrics, Tohoku University School of Medicine, Japan‌Tohoku University Graduate School of Medicine and Tohoku University Tohoku Medical Megabank
Organization, Japan‌Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Japan

A case of 11p13 duplication encompassing PAX6 and ELP4 with ocular andneurodevelopmental phenotypes and GH deficiency‌Naoki Hamajima, Sawako Tajiri, Naomi Nishikawa
Center for Genetic and Genomic Medicine, Nagoya City University West Medical Center, Japan

P3-08-26

Difficulties in clinical diagnosis of Kabuki syndrome in newborns CAKUT as a possible
diagnostic clue
‌Daisuke Nakato1, Toshiki Takenouchi2, Kenjiro Kosaki1
1
2‌Centerfor Medical Genetics, Keio University School of Medicine, Japan‌Department of Pediatrics, Keio University School of Medicine, Japan

Poster Session 3-09
Date

Asian Genetics：Saturday, October 14, 2023

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

P3-09-1

Withdrawn

P3-09-2

History of non-African human populations inferred from introgressed archaic variants‌Hanako Miwa, Jun Ohashi
The University of Tokyo, Japan

146

P3-09-3

Whole genome sequencing for Japanese patients with Leber's congenital amaurosis
and early onset retinal dystrophy‌
Kaoruko
Torii1, Sachiko Nishina2, Hazuki Morikawa2, Kei Mizobuchi3, Masakazu Takayama1,
Nobutaka Tachibana1, Tadashi Yokoi2, Sachiko Miyamoto1, Maki Fukami2, Hiroyuki Kondo4,
Noriyuki Azuma2,5, Takaaki Hayashi3, Hirotomo Saitsu1, Yoshihiro Hotta1
1
2
3
4
5

P3-09-4‌Hamamatsu
University School of Medicine, Japan‌National Center for Child Health and Development, Japan‌The Jikei University School of Medicine, Japan‌University of Occupational and Environmental Health, Japan‌Medical Research Institute, Tokyo Medical and Dental University, Japan

A novel silent variant in the EYA4 gene causing hearing loss by affecting RNA splicing‌Min Chen, Min-Yue Dong
Women’s Hospital, School of Medicine, Zhejiang University, China

P3-09-5

A case of Protein S deficiency with a novel frameshift variant‌ChihiroOkoshi1, Asako Yosie2, Toma Fukuda1, Shun Yasuda1, Hidekazu Nishigori3,
Takafumi Watanabe1,2
1
2
3

P3-09-6‌Departmentof Obstetrics and Gynecology, Fukushima Medical University, Japan‌Division of Clinical Genetics, Fukushima Medical University, Japan‌Fukushima Medical Center for Children and Women, Fukushima Medical University, Japan

Prevalence of familial hypercholesterolemia, phenylketonuria, Factor V Leiden mutationin Thai population‌
Rosalind
Lalitkulanant1, Paravee Own-eium2, Thanyachai Sura3, Prin Vathesatogkit4,
Piyamitr Sritara4, Jakris Eu-ahsunthornwattana5, Donniphat Dejsuphong2
1
2
3
4
5

P3-09-7‌
Undergraduate
Program Doctor of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University,
Bangkok, Thailand‌Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok,
Thailand‌Division of Medical Genetics, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol
University, Bangkok, Thailand‌Division of Cardiology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University,
Bangkok, Thailand‌Department of Community Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok,
Thailand

Genome-wide association study by proxy on WGS: Susceptibility loci in dementia via
Tohoku Medical Megabank Organization‌
MakikoTaira1,2, Nobuo Fuse1,3, Andrew J. Saykin4,5,6, Fuji Nagami1,2, Kengo Kinoshita1,3,7,
Masayuki Yamamoto1,3
1
2
3
4
5
6
7

‌
TohokuMedical Megabank Organization, Tohoku University, Japan‌Tohoku University Graduate School of Medicine, Japan‌Tohoku University Advanced Research Center for Innovations in Next-Generation, Japan‌Indiana University Graduate Schoolof Medicine, USA‌Center for Neuroimaging and Indiana Alzheimer's Disease Research Center, Indiana University, USA‌The Genetics Core of the National Institute on Aging (NIA) Alzheimer's Disease Neuroimaging Initiative (ADNI),
USA‌Tohoku University Graduate School of Information Sciences, Japan147

Poster Session 3-10
Date

Rare Diseases 3：Saturday, October 14, 2023

P3-10-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Identification of a novel deep intronic DDC variant in patients with aromatic l-aminoacid decarboxylase deficiency‌Eriko
Koshimizu1, Satoko Miyatake1,2, Kazuharu Misawa1, Yuri Uchiyama1,3, Naomi Tsuchida1,3,
Kohei Hamanaka1, Atsushi Fujita1, Takeshi Mizuguchi1, Mitsuhiro Kato4, Naomichi Matsumoto1
1
2
3
4

P3-10-2‌Yokohama
City University Graduate School of Medicine, Japan‌Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan‌Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan‌Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan

Genetic background and clinical features of congenital or early-onset deafblindness inJapan‌TatsuoMatsunaga1, Kiyomitsu Nara1, Hideki Mutai1, Haruka Murakami1, Satomi Inoue1,
Reiko Muramatsu1, Kazuki Yamazawa1, Shujiro Minami1, Kaoru Fujinami1, Masato Fujioka2,
Nobuko Yamamoto3, Noriko Morimoto3, Nana Tsuchihashi4, Masatsugu Masuda5, Yukiko Arimoto6,
Atsuko Nakano6, Hirokazu Sakamoto7, Toshiyuki Seto7, Sayaka Katsunuma8, Shinji Higuchi9
1
2
3
4
5
6
7
8
9

P3-10-3‌National
Hospital Organization Tokyo Medical Center, Japan‌Keio University School of Medicine, Japan‌National Center for Child Health and Development, Japan‌Kyushu University School of Medicine, Japan‌Kyorin University Faculty of Medicine, Japan‌Chiba Children’s Hospital, Japan‌Osaka Metropolitan University Faculty of Medicine, Japan‌Hyogo Prefectural Kobe Children’s Hospital, Japan‌Osaka City General Hospital, Japan

Bardet-Biedl syndrome caused by a novel homozygous deletion in BBIP1 presenting
with kidney failure in one sibling‌
RiniRossanti1,8, Naoya Morisada2,3, Ahmedz Widiasta1,8, Yunia Sribudiani8,9, Purboyo Solek4,
Irawati Irfani5, Dedi Rachmadi1,8, Dany Hilmanto1, Kandai Nozu2, Kazumoto Iijima6,7
1
2
3
4
5
6
7
8
9

P3-10-4‌Departmentof Child Health, Nephrology Division, Dr. Hasan Sadikin General Hospital / Faculty of Medicine,
Universitas Padjadjaran, Bandung, Indonesia‌Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan‌Department of Clinical Genetics, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan‌Department of Child Health, Pediatric Neurology Division, Dr. Hasan Sadikin General Hospital / Faculty of
Medicine, Universitas Padjadjaran, Bandung, Indonesia‌Department of Ophthalmology, Pediatric Ophthalmology & Strabismus Division, Cicendo Eye Hospital / Facultyof Medicine, Universitas Padjadjaran, Bandung, Indonesia‌Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan‌Department of Advanced Pediatric Medicine, Kobe University Graduate School of Medicine, Kobe, Japan‌Medical Genetic Research Center, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia‌Department of Biomedical Sciences, Division of Biochemistry and Molecular Biology, Faculty of Medicine,
Universitas Padjadjaran, Bandung, Indonesia

A case of hypogonadism and mitochondrial disease with concomitant variants in
FGFR1 and RRM2B‌Rieko Kosugi1, Tatsuo Ogawa1, Hiroyuki Ariyasu1, Tatsuhide Inoue1, Tsutomu Ogata2, Takeshi Usui3
1
2
3

P3-10-5‌
Shizuoka
General Hospital, Japan‌Hamamatsu University School of Medicine, Japan‌Shizuoka Graduate University of Public Health, Japan

A case of 19p13.3 microdeletion syndrome associated with growth hormone
dyssecretion-induced short stature‌Aki Ishikawa, Miyako Mizukami, Akira Ishii, Takeshi Tsugawa, Akihiro Sakurai
Sapporo Medical University, Japan

P3-10-6

Hustle in my muscle: A case of Pompe disease‌Marielle Millete Bravo, James Albert Edward Benitez, Marie Julianne Racoma
Bataan General Hospital and Medical Center, Philippines148

P3-10-7

A new case of Lysyl hydroxylase 3 deficiency caused by biallelic pathogenic variants in
PLOD3‌Yuiko Hasegawa1, Taiga Aoki2, Kazumi Kawato1,2, Kumiko Yanagi2, Tadashi Kaname2,
Nobuhiko Okamoto1,2
1
2

P3-10-8‌
Osaka
Women's and Children's Hospital, Japan‌Department of Genome Medicine, National Center for Child Health and Development, Japan

Three patients with classical lissencephaly and PAFAH1B1 deletion‌
HiroshiMatsumoto1, Fumi Hirose2, Hajime Wakamatsu2, Eri Takeshita3, Mitsuhiro Kato4,
Mitsuko Nakashima5, Hirotomo Saitsu5, Shigeaki Nonoyama2
1
2
3
4
5

P3-10-9‌
SaitamaMedical University, Japan‌Department of Pediatrics, National Defense Medical College, Japan‌Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan‌Department of Pediatrics, Showa University School of Medicine, Japan‌Department of Biochemistry, Hamamatsu University School of Medicine, Japan

Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping‌Yoichi
Mashimo1, Norihiro Shimizu2,3, Hirotaka Yokouchi2, Yosuke Nishio4,5, Setsu Sawai6,7,
Tomohiko Ichikawa7,8, Tomoo Ogi5,9,10,11, Takayuki Baba2, Yoshihiro Onouchi1,7
1 ‌Department of Public Health, Chiba University Graduate School of Medicine, Japan2 ‌Department of Ophthalmology and Visual Science, Chiba University Graduate School of Medicine, Japan
3 ‌Department of Ophthalmology, Japanese Red Cross Narita Hospital, Japan4 ‌Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan5 ‌Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan6 ‌Department of Neurology, Chiba Aoba Municipal Hospital, Japan
7 ‌Division of Clinical Genetics, Chiba University Hospital, Japan
8 ‌Department of Urology, Chiba University Graduate School of Medicine, Japan9 ‌Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Japan10 ‌Center for One Medicine Innovative Translational Research (COMIT), Nagoya University Institute for Advanced
Study, Japan11 ‌Division of Molecular Physiology and Dynamics, Institute for Glyco-core Research (iGCORE), Tokai National
Higher Education and Research System, Japan

P3-10-10

Experiences and perceptions of the symptoms of patients with Fabry disease during
their undiagnosed period‌Moeko Isono1, Minori Kokado1, Rie Okada2, Hisao Harada2, Kazuto Kato1
1
2

P3-10-11‌
Osaka
University, Japan‌Japan Fabry Disease Patients and Family Association (JFA), Japan

Detection of copy number variations from whole exome sequencing in skeletal
dysplasia patients‌Kenichi
Yamamoto1,2,3, Yasuhisa Ohata3, Makoto Fujiwara3, Shinji Takeyari3, Chieko Yamada3,
Yukako Nakano3, Hirofumi Nakayama3,5, Ikue Hata6, Taichi Kitaoka3, Takuo Kubota3,
Yukinori Okada4, Keiichi Ozono3
1
2
3
4
5
6

P3-10-12‌
Osaka
University Graduate School of Medicine, Japan‌Lab. of Children's health and Genetics, Div. of Health Science, Osaka University Graduate School of Medicine,Japan‌Dept. of Pediatrics, Osaka University Graduate School of Medicine, Japan‌Dept. of Statistical Genetics, Osaka University Graduate School of Medicine, Japan‌Surgery for Oral and Maxillofacial Disease, Osaka University Graduate School of Dentistry, Japan‌Dept. of Pediatrics, Fukui Prefectural Hospital, Japan

Five cases of the LIPH gene identified in Japanese patients with autosomal recessive
woolly hair‌SatokoMinakawa1,2,3, Yasushi Matsuzaki2, Eijiro Akasaka2, Tamio Suzuki4, Hirofumi Tomita3,
Daisuke Sawamura2
1
2
3
4

‌
Hirosaki
University Graduate School of Medicine / Hirosaki University Hospital, Japan‌Department of Dermatology, Hirosaki University Graduate School of Medicine, Aomori, Japan‌Department of Clinical Laboratory, Hirosaki University Hospital, Aomori, Japan‌Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan

149

P3-10-13

Genetic landscape of Japanese pediatric patients with neurodevelopmental disorders‌
Daiju
Oba, Mariko Sagara, Sayuri Oda-Hasuko, Kenta Hasumi, Miyu Fukushima, Yuki Sawada,
Miwako Kizumi, Hirofumi Ohashi
Saitama Children's Medical Center, Japan

P3-10-14

A Japanese pedigree of acral peeling skin syndrome suggesting autosomal-dominant
inheritance‌Toshihide Higashino1, Mayu Konomi1, Yusuke Kawamura2, Yoshinori Miura1
1
2

P3-10-15‌
Self-Defense
Forces Central Hospital, Japan‌National Defense Medical College, Japan

De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome
with brain structural abnormalities‌
MitsukoNakashima1, Emanuela Argilli3, Sayaka Nakano4, Elliott Sherr3, Mitsuhiro Kato2,
Hirotomo Saitsu1
1
2
3
4

P3-10-16‌
Hamamatsu
University School of Medicine, Japan‌Showa University School of Medicine, Japan‌University of California, USA‌Itami City Hospital, Japan

Long-term survival case with severe infantile Marfan syndrome‌
ItsumiSato, Atsuhito Takeda, Hirokuni Yamazawa, Ayako Chida-Nagai, Daisuke Sasaki, Yuji Maruo,
Asuka Takahata
Department of Pediatrics, Hokkaido University Hospital, Japan

P3-10-17

BUSHY BABY, CAN’T DO POTTY: A case of Cornelia de Lange syndrome with rare caseof annular pancreas in a newborn‌Ina Paula Santos
BGHMC, Philippines

P3-10-18

The genetic and clinical spectrum of Coffin-Siris syndrome-8 due to SMARCC2 variants‌Rika Kawata1, Naomi Araki1, Asuka Hori4, Kenichiro Hata3,4, Fumio Takada2
1
2
3
4

P3-10-19‌
Kitasato
University Hospital, Japan‌Kitasato University Graduated School of Medical Sciences, Japan‌Gunma University Graduate School of Medicine, Japan‌Research Institute, National Center for Child Health and Development, Japan

Clinical retrospective study of fat emulsion, tranexamic acid, and ascorbic acid in 4
patients with ARC syndrome‌
Yasutsugu
Chinen1, Sadao Nakamura1, Noriko Nakayama1, Hideki Goya1, Tomohide Yoshida1,
Kumiko Yanagi2, Tadashi Kaname2, Kenji Naritomi3, Koichi Nakanishi1
1
2
3

P3-10-20‌Graduate
School of Medicine, University of the Ryukyus, Japan‌Department of Genome Medicine, National Center for Child Health and Development, Japan‌Okinawa Nanbu Habilitation and Medical Center, Japan

Adventitial collagen fibrils in mouse model for vascular Ehlers-Danlos syndrome‌Kazuyo Kiribayashi1, Shinichiro Ohno2, Natsuko Inagaki1, Masahiko Kuroda2
1
2

P3-10-21‌
Tokyo
Medical University Hospital, Japan‌Tokyo Medical University, Japan

Genetic testing and clinical care for Birt-Hogg-Dubé syndrome: A study of 5 families‌Yuna
Sasaki1, Mitsuko Furuya1,2, Takahiro Osawa3, Teruki Yanagi4, Kaoruko Shimizu5,
Yuka Shibata1, Masaaki Matsushima1,6, Ichiro Yabe1,6, Takahiro Yamada1
1
2
3
4
5
6

‌
Divisionof Clinical Genetics, Hokkaido University Hospital, Japan‌Department of Surgical Pathology, Hokkaido University Hospital, Japan‌Department of Renal and Genitourinary Surgery, Hokkaido University Hospital, Japan‌Department of Dermatology, Hokkaido University Hospital, Japan‌Department of Respiratory Medicine, Hokkaido University Hospital, Japan‌Department of Neurology, Hokkaido University Hospital, Japan150

P3-10-22

How to visualize the phenotype diversity: A report with Alexander’s disease casereports‌EisukeDohi1, Yuka Tateishi2, Jae-moon Shin3, Shinichiro Tago4, Toyofumi Fujiwara3,
Yasunori Yamamoto3
1
2
3
4

P3-10-23‌National
Center of Neurology and Psychiatry, Japan‌Japan Science and Technology Agency Department of NBDC Program, Japan‌Research Organization of Information and Systems, Database Center for Life Science, Japan‌Computing Laboratory, Fujitsu Limited, Japan

A case of multiple clinical manifestations leading to the diagnosis of Alstrom syndrome‌Yumi Matsuyama1,2, Yonehiro Kanemura3, Hiroyuki Yasojima4, Tatsuo Matsunaga5,
Hiroshi Nishimura6
1
2
3
4
5
6

P3-10-24‌Divisionof Molecular Medicine, Institute for Clinical Research, National Hospital Organization, Osaka National
Hospital, Japan‌Gifu University Hospital, Clinical Genetics Center, Japan‌Institute for Clinical Research, National Hospital Organization, Osaka National Hospital, Japan‌Department of Surgery, Breast Oncology, National Hospital Organization, Osaka National Hospital, Japan‌National Institute of Sensory Organs Division of Hearing and Balance Research / Medical Genetics Center,
National Hospital Organization Tokyo Medical Center, Japan‌Department of Otorhinolaryngology-Head and Neck Surgery, National Hospital Organization Osaka National
Hospital, Japan

Comprehensive support for families regarding intellectual developmental disorder by
KDM5C variants‌
HiroshiFutagawa1, Kentar Fukuda1, Haruka Yamanaka1, Maho Kuroda1, Shiho Ito1,
Masataka Honda1, Mamiko Yamada2, Hisato Suzuki2, Toshiki Takenouchi2, Kenjiro Kosaki2,
Hiroshi Yoshihashi1
1
2

P3-10-25‌Tokyo
Metropolitan Children's Medical Center, Japan‌Center for Medical Genetics, Keio University School of Medicine, Japan

Acute encephalopathy with ATP1A2 mutation: Case reports‌
Naoki
Yamada1, Ichiro Kuki1, Kohei Matsubara1, Risako Ishioka3, Masataka Fukuoka1,
Megumi Nukui1,3, Takeshi Inoue1, Kiyoko Amo2, Shin Okazaki1,31
2
3P3-10-26‌Departmentof Pediatric Neurology, Osaka City General Hospital, Japan‌Department of Pediatric Emergency, Osaka City General Hospital, Japan‌Department of Pediatric Logopedics, Osaka City General Hospital, Japan

Initiative on Rare and Undiagnosed Diseases (IRUD) at Tottori University Hospital‌
Tomoki
Nonaka1, Tetsuya Okazaki1, Noriko Kasagi1,2, Kaori Adachi2, Eiji Nanba2,3, Hiroyuki Awano1,2,
Yoshihiro Maegaki1
1
2
3

P3-10-27‌
Tottori
University Hospital, Japan‌Tottori University, Japan‌Otani Hospital, Japan

Dual genetic diagnosis contributes to atypical mitochondrial encephalomyopathy, lactic
acidosis and stroke-like episodes‌Lip Hen Moey1, Yusnita Yakob2
1
2‌Departmentof Clinical Genetics, Penang Hospital, Malaysia‌Unit of Molecular Diagnostics, Specialised Diagnostics Centre, Institute for Medical Research, National Instituteof Health, Ministry of Health Malaysia, Malaysia

Poster Session 3-11
Date

Ethical, Legal and Social Implications：Saturday, October 14, 2023

P3-11-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

A qualitative study on the reasons for access restrictions to sensitive medical
information, including genetic data
‌Mizuho Suzuki, Yuko Ohnuki, Ai Unzaki, Kei Takeshita
Tokai University School of Medicine, Japan151

P3-11-2

Exploratory study for patient and public involvement in genomic researchers‌Suzuka Kato1, Hiroko Kohbata1, Yusuke Ebana1, Kaori Muto2, Fuji Nagami3, Masayuki Yoshida1
12
3

P3-11-3‌Tokyo
Medical and Dental University, Japan‌The University of Tokyo, Japan‌Tohoku University, Japan

Report on genetic testing activities at the section of genetic testing for congenital
disorders in CLC at NCCHD‌Yoko Kuroki1,2,3,4,5, Keiko Matsubara1,2,4,5,7, Aki Ueda1,2,4,5,7, Nobutaka Kiyokawa1,2,6, Maki Fukami1,5,7
1
2
3
4
5
6
7

P3-11-4‌National
Center for Child Health and Development, Japan‌Clinical Laboratory Center, National Research Institute for Child Health and Development, Japan‌Dept. of Genome Medicine, National Research Institute for Child Health and Development, Japan‌Div. of Collaborative Research, National Research Institute for Child Health and Development, Japan‌Div. of Diversity Research, National Research Institute for Child Health and Development, Japan‌Dept. of Pediatric Hematology and Oncology Research, National Research Institute for Child Health andDevelopment, Japan‌Dept. of Molecular Endocrinology, National Research Institute for Child Health and Development, Japan

Equity, diversity, and inclusion in genomics: An analysis of the current state ofknowledge and initiatives‌Kate Nakasato1,2, Kazuto Kato1,2
1
2

P3-11-5‌Osaka
University Graduate School of Medicine, Japan‌Department of Biomedical Ethics and Public Policy, Osaka University Graduate School of Medicine, Japan

Withdrawn

Poster Session 3-12
Date

Genetic Counseling in Asia 3：Saturday, October 14, 2023

P3-12-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Report on genetic tumor counseling and genomic profiling - A case of pathogenic
variant in ATM‌Tomoko Ito, Kouji Ohta, Jun Kato, Ikue Hata
Fukui Prefectural Hospital, Japan

P3-12-2

Genetic counseling for late-onset neurodegenerative diseases (LONDs): Lessons from
Taiwan‌NaiQi Chen, Yih-Ru Cheng, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien
National Taiwan University Hospital, Taiwan

P3-12-3

Reliability and validity of the Japanese version multidimensional impact of cancer risk
(MICRA) scale‌TomokoWatanabe1, Kaori Kimura2, Minako Kakimoto3, Yumie Hiraoka2, Manami Matsukawa1,
Hiroko Nagahashi3, Saki Horiguchi3, Miwa Toshima3, Takeshi Kuwata2, Teruhiko Yoshida1,
Makoto Hirata1, Noriko Tanabe1,4
1
2
3
4

P3-12-4‌Departmentof Genetic Medicine and Services, National Cancer Center Hospital, Japan‌Department of Genetic Medicine and Services, National Cancer Center Hospital East, Japan‌Department of Nursing, National Cancer Center Hospital, Japan‌Department of Clinical Genetics, Saitama Medical Center, Saitama Medical University, Japan

BRCA pathogenic variant carrier who developed ovarian cancer before RRSO
‌Ai Itagaki, Yukiko Yoshimoto, Tsuyoshi Tachibana, Sachiko Takahara
Kitano Hospital, Japan

152

P3-12-5

Transmission of genetic test results to blood relatives by BRCA variant holders‌Maki Ukita1, Toru Murata3, Rieko Fujie2, Tamae Oe1
1
2
3

P3-12-6‌Fieldof Genetic Counseling, Department of Clinical Laboratory Medicine, Graduate School of Health Sciences,
Fujita Health University, Japan‌Medical Communication, Medical faculty, Fujita Health University, Japan‌Okazaki Municipal Hospital, Japan

Perceptions of Filipino adolescents and emerging adults with IMD and providers inachieving transition to adult care‌Roxanne Janica Merencilla1, Leniza de Castro-Hamoy2
1
2

P3-12-7‌Instituteof Human Genetics, National Institute for Health - University of the Philippines Manila, Philippines‌Department of Pediatrics- Philippine General Hospital, Philippines

Case of CPS-1 deficiency with a family history: Problems in genetic counseling forneonatal-onset of metabolic disorders‌Yuta Sudo, Yoko Nakajima, Yasuaki Yasuda, Katsuyuki Yokoi, Tetsushi Yoshikawa, Tetsuya Ito
Department of Pediatrics, Fujita Health University School of Medicine, Japan

P3-12-8

Changes in BRCA genetic testing and information management for breast cancer
patients‌
Kazuo
Matsuura, Ayaka Sakakibara, Ayako Nakame, Yuki Ichinose, Akihiro Fujimoto, Asami Nukui,
Kei Yamaguchi, Aya Asano, Hiroko Shimada, Masahiro Ohara, Hiroshi Ishiguro, Akihiko Osaki,
Toshiaki Saeki
Department of Breast Oncology, Saitama Medical University International Medical Center, Japan

P3-12-9Impact on quality of life in women with hereditary breast and ovarian cancer
undergoing risk-reducing mastectomy‌Mayuko Inuzuka1,2, Chie Watanabe1,2, Kanae Taruno1, Takashi Kuwayama1, Seigo Nakamura1,3
1
2
3

‌
Departmentof Surgery, Division of Breast Surgical Oncology, Showa University School of Medicine, Japan‌Showa University Graduate School of Health Sciences, Japan‌Showa University Institute for Clinical Genetics and Genomics, Japan

Poster Session 3-13
Date

Others：Saturday, October 14, 2023

P3-13-1

13:00 ～ 13:30

Poster Room（Big Hall, 2F, Zenkoku Toshi Kaikan）

Prevalence and characterization of NOTCH2NLC GGC repeat expansions in Koreans‌Seungbok
Lee1,2, Jihoon Yoon1, Juhyeon Hong3, Narae Kim4, Jana Vandrovcova5, Wai Yan Yau6,Jae So Cho1,2, Sheehyun Kim1, Man Jin Kim1,7, Soon-Tae Lee4, Kon Chu4, Sang Kun Lee4,
Han-Joon Kim4, Jungmin Choi3, Jangsup Moon1,4, Jong Hee Chae1,2
1
2
3
4
5
6
7

P3-13-2‌Departmentof Genomic Medicine, Seoul National University Hospital, Seoul, Korea‌Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s
Hospital, Seoul, Korea‌Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea‌Department of Neurology, Seoul National University Hospital, Seoul, Korea‌Department of Neuromuscular Diseases, Institute of Neurology, University College London, London, United
Kingdom‌Perron Institute for Neurological and Translational Science, the University of Western Australia, Nedlands,
Western Australia, Australia‌Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea

The study of the significance of learning human genetics on self-esteem for highschool students in Japan‌Yuka Wada1, Takahito Wada2, Sinji Kosugi1, Takeshi Nakajima112‌Genetic
Counselor Course, Graduate School of Medicine, Kyoto University, Japan‌Department of Genomic Medicine, Graduate School of Medicine, Kyoto University, Japan153

P3-13-3

Impact of modern human-specific genetic changes in skeletal muscle: Insights from amouse model with humanized ADSL gene‌Shin-Yu Lee1, Xiang-Chun Ju1, Chika Azama1, Limin Chen1, Hugo Zeberg1,2,3, Srante Pääbo1,3
1
2
3

P3-13-4‌
Human
Evolutionary Genomics Unit, Okinawa Institute of Science and Technology, Okinawa, Japan‌Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden‌Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany

Malagasy with Asian roots - Cleft lip and palate surgery‌Yasuyoshi Tosa
Department of Plastic and Reconstructive Surgery, Keio University School of Medicine, Japan

Luncheon Seminar in English
Luncheon Seminar 1
Date：Thursday, October 12, 2023 12:00 ～ 12:50 Room A（Cosmos, 3F, Toshi Center Hotel）
Chair ：Kenjiro Kosaki（‌Center for Medical Genetics, Keio University School of Medicine, Japan）
Sponsor：Twist Bioscience, JAPANLS1

Genomics for Lifelong Health Benefits: Applications in Screening, Diagnosis andPrediction‌Sebastian Lunke
Division of Genetics and Genomics, Victorian Clinical Genetics Services, Murdoch Children's Research Institute,
Melbourne, Australia

Luncheon Seminar 5
Date：Thursday, October 12, 2023 12:00 ～ 12:50 Room E（706, 7F, Toshi Center Hotel）
Chair ：Tomohiro Yamamoto（‌Molecular Systems Marketing Dept. Hitachi High-Tech, Japan）
Sponsor：Hitachi High-Tech
LS5

A novel system for human whole-genome structural variation analysis‌John Thompson1, Tateo Nagai2, Justin Cowling3
1
2
3

‌
Principal
Application Scientist, Nabsys, USA‌Genomic Bioinformatics, Business Creation Dept. Hitachi High-Tech, Japan‌VP Sales and Marketing, OmniTier, USA

Luncheon Seminar 10
Date
Chair

：Friday, October 13, 2023 12:00 ～ 12:50 Room D（701, 7F, Toshi Center Hotel）：Yutaka Suzuki（‌Laboratory of Systems Genomics, Department of Computational Biology and Medical
Sciences, Graduate School of Frontier Sciences, The University of Tokyo）
Sponsor：MGI Tech Co., Ltd.
LS10

Critical elements for protecting children from severe genetic disorders at the genome
medicine era in China.
‌Yiping Shen
Division of Genetics and Genomics, Harvard Medical School, Boston, USA154

Luncheon Seminar 11
Date：Friday, October 13, 2023 12:00 ～ 12:50 Room E（706, 7F, Toshi Center Hotel）
Chair ：Masayuki Yoshida（‌Tokyo Medical and Dental University Hospital, Japan）
Sponsor：FINGGAL LINK CO., LTD.

Limiting gene testing in cancer patients deprives them of clinically useful information:
The case for universal testing

LS11‌Robert L. Nussbaum
Invitae Corporation, USA

Luncheon Seminar 16

Oxford Nanopore: A high-precision approach for exploring human disease

Date：Saturday, October 14, 2023 12:00 ～ 12:50 Room D（701, 7F, Toshi Center Hotel）
Chair ：Kenjiro Kosaki（‌Center for Medical Genetics, Keio University School of Medicine, Japan）
Sponsor：Oxford Nanopore Technologies plc
LS16-1Long-read Nanopore sequencing identified D4Z4 contractions in patients with
facioscapulohumeral muscular dystrophy‌Vorasuk ShotelersukCenter of Excellence for Medical Genomics, Faculty of Medicine, Chulalongkorn University
Thai Society of Human Genetics (TSHG)

LS16-2The high precision of the latest nanopore sequencers and the future of nanopore
sequencers.
‌Mari Miyamoto
Oxford Nanopore Technologies, Japan

Luncheon Seminar 18
Date
Chair

How to get your clinical research published：Saturday, October 14, 2023 12:00 ～ 12:50 Room F（Meeting Room 1, 3F, Zenkoku Toshi Kaikan）：Toshiki Takenouchi（‌Department of Pediatrics, Keio University School of Medicine, Japan）

LS18-1

Clinical case value and presentation‌Yiping Shen
Boston Children's Hospital, Medical School, USA

LS18-2

How to write succinct introduction
Guidelines for responding to reviewers‌Tiong Yang Tan
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, University of Melbourne Department ofPaediatrics, Royal Children’s Hospital, Australia

LS18-3

How to produce publication quality figures‌Katta M. Girisha
Sultan Qaboos University, Muscat, Oman and Manipal Academy of Higher Education, Manipal, India

LS18-4Using the Elements of Morphology in your case reports‌Brian H.Y. Chung
Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong,
Hong Kong

155