DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER
Year: 2025
Type: preprint
Language: en
Topic: RNA Research and Splicing
Authors and affiliations:
raw_author_name: Wallid Deb
raw_affiliation_strings: Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France;
Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France
raw_author_name: Thomas Besnard
raw_affiliation_strings: Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France;
Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France
raw_author_name: Florence Desprez
raw_affiliation_strings: Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France;
Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U153, Tours, France
raw_author_name: Benjamin Cogné
raw_affiliation_strings: Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France;
Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France
raw_author_name: Laura Do Souto Ferreira
raw_affiliation_strings: Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France;
Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France
raw_author_name: Virginie Vignard
raw_affiliation_strings: Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France;
Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France
raw_author_name: Sylviane Marouillat
raw_affiliation_strings: Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France;
Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U153, Tours, France
raw_author_name: Louis Januel
raw_affiliation_strings: GCS AURAGEN, Lyon, France;
GCS AURAGEN, Lyon, France
raw_author_name: Svetlana Gorokhova
raw_affiliation_strings: GCS AURAGEN, Lyon, France;
GCS AURAGEN, Lyon, France
raw_author_name: Tiffany Busa
raw_affiliation_strings: Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France;
Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France
raw_author_name: Victor Morel
raw_affiliation_strings: Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France;
Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France
raw_author_name: Benjamin Dauriat
raw_affiliation_strings: Service de cytogénétique et génétique médicale, CHU Limoges, France;
Service de cytogénétique et génétique médicale, CHU Limoges, France
raw_author_name: Vincent Desportes
raw_affiliation_strings: Centre de Référence des Maladies Rares et Déficience Intellectuelle, HCL Université de Lyon, Service de Neuropédiatrie HFME, Lyon, France;
Centre de Référence des Maladies Rares et Déficience Intellectuelle, HCL Université de Lyon, Service de Neuropédiatrie HFME, Lyon, France
raw_author_name: Anne M Slavotinek
raw_affiliation_strings: Department of Pediatrics, University of California, San Francisco, California, USA;
Department of Pediatrics, University of California, San Francisco, California, USA
raw_author_name: Yu An
raw_affiliation_strings: Department of Pediatrics, University of California, San Francisco, California, USA;
Department of Pediatrics, University of California, San Francisco, California, USA
raw_author_name: Hane Lee
raw_affiliation_strings: Department of Pathology and Laboratory Medicine, Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, USA;
Department of Pathology and Laboratory Medicine, Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, USA
raw_author_name: Jessy Hary
raw_affiliation_strings: Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France;
Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France
raw_author_name: Peter Kannu
raw_affiliation_strings: Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada;
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
raw_author_name: Taryn B Athey
raw_affiliation_strings: Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada;
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
raw_author_name: Ingrid M.B.H van de Laar
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands;
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
raw_author_name: Marjon A van Slegtenhorst
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands;
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
raw_author_name: Patricia Dickson
raw_affiliation_strings: Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid, Saint Louis, MO, 63110, USA;
Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid, Saint Louis, MO, 63110, USA
raw_author_name: Alison M Muir
raw_affiliation_strings: GeneDx, LLC, Gaithersburg, MD, 20877, USA.;
GeneDx, LLC, Gaithersburg, MD, 20877, USA
raw_author_name: Rebecca Buchert
raw_affiliation_strings: Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany;
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany
raw_author_name: Tobias B Haack
raw_affiliation_strings: Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany;
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany
raw_author_name: Dominic Imort
raw_affiliation_strings: KinderNeuro-Soltau, Soltau, Germany;
KinderNeuro-Soltau, Soltau, Germany
raw_author_name: Sérgio B Sousa
raw_affiliation_strings: Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal;
Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
raw_author_name: Belinda Xavier
raw_affiliation_strings: Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal;
Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
raw_author_name: Pedro M Almeida
raw_affiliation_strings: Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal;
Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
raw_author_name: Mihael Rogac
raw_affiliation_strings: Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia;
Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia
raw_author_name: Borut Peterlin
raw_affiliation_strings: Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia;
Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia
raw_author_name: Sophie Kaspar
raw_affiliation_strings: Institute of Human Genetics, University Hospital Cologne, Germany;
Institute of Human Genetics, University Hospital Cologne, Germany
raw_author_name: Christian Netzer
raw_affiliation_strings: Institute of Human Genetics, University Hospital Cologne, Germany;
Institute of Human Genetics, University Hospital Cologne, Germany
raw_author_name: Hans Zempel
raw_affiliation_strings: Institute of Human Genetics, University Hospital Cologne, Germany;
Institute of Human Genetics, University Hospital Cologne, Germany
raw_author_name: Meghan C Towne
raw_affiliation_strings: Ambry Genetics, Aliso Viejo, California, USA;
Ambry Genetics, Aliso Viejo, California, USA
raw_author_name: Roger L Ladda
raw_affiliation_strings: Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA;
Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA
raw_author_name: Susan S Sell
raw_affiliation_strings: Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA;
Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA
raw_author_name: Pawel Gawlinski
raw_affiliation_strings: Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland;
Institute of Mother and Child, Kasprzaka 17a, 01-1 Warsaw, Poland
raw_author_name: Xiaofei Song
raw_affiliation_strings: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA;
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Wojciech Wiszniewski
raw_affiliation_strings: Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland;
Institute of Mother and Child, Kasprzaka 17a, 01-1 Warsaw, Poland
raw_author_name: Daniel G Calame
raw_affiliation_strings: Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Jennifer E Posey
raw_affiliation_strings: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA;
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Frederic Ebstein
raw_affiliation_strings: Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France;
Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France
raw_author_name: James R Lupski
raw_affiliation_strings: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA;
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Bertrand Isidor
raw_affiliation_strings: Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France;
Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France
raw_author_name: Stéphane Bézieau
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Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France
raw_author_name: Frédéric Laumonnier
raw_affiliation_strings: Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France;
Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U153, Tours, France
raw_author_name: Sébastien Küry
raw_affiliation_strings: Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France;
Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France