Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism, and epilepsy
Year: 2025
Type: article
Language: en
Topic: Genetics and Neurodevelopmental Disorders
Authors and affiliations:
raw_author_name: Yuda Wei
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Kai Liu
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Changrui Mi
raw_affiliation_strings: Department of Pediatrics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Jing Yu
raw_affiliation_strings: Department of Neurology, Children's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Hospital of Beijing Children's Hospital, Urumqi, Xinjiang, China
raw_author_name: Ruopeng Sun
raw_affiliation_strings: Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, China
raw_author_name: Shengxing Miao
raw_affiliation_strings: Rehabilitation Medicine Department, Jiangxi Children's Hospital, Nanchang, Jiangxi, China
raw_author_name: Haiqi Li
raw_affiliation_strings: Department of Child Health Care, Children's Hospital of Chongqing Medical University, Chongqing, China
raw_author_name: Huili Xue
raw_affiliation_strings: Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Fujian Medical University, Fuzhou, Fujian, China
raw_author_name: Xiaxia Liu
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Yanyan Hu
raw_affiliation_strings: Department of Pediatrics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Yongzhen Qi
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; School of Medical Laboratory, Shandong Second Medical University, Weifang, Shandong, China
raw_author_name: Jie Zhang
raw_affiliation_strings: Department of Imaging, Zhengshan Street Health Center, Linyi, Shandong, China
raw_author_name: Lili Tong
raw_affiliation_strings: Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, China
raw_author_name: Chen Zhao
raw_affiliation_strings: Department of Neurology, Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China
raw_author_name: Liangqian Jiang
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Juan Teng
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Xingzhu Geng
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Chengcheng Gai
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Hongyan Xu
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Lin Li
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China
raw_author_name: Fengyuan Che
raw_affiliation_strings: Central Laboratory, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Neurology, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China. Electronic address: che1971@126.com
raw_author_name: Chunhai Gao
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China. Electronic address: gchunhai@126.com
raw_author_name: Xiangyu Zhao
raw_affiliation_strings: Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China. Electronic address: xiangyuzhao@126.com