Reanalysis of whole genome sequencing ends a diagnostic odyssey of neurodevelopmental disorders caused by RNU4-2 variants  

作　　者：Shiqi Fan Shuanghao Yang Miao Sun Weiyue Gu Xue Zhang 

机构地区：[1]State Key Laboratory for Complex Severe and Rare Diseases,Peking Union Medical College Hospital&Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing,100005,China [2]McKusick-Zhang Center for Genetic Medicine,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing,1000005,China [3]Hubei Key Laboratory of Agricultural Bioinformatics,College of Informatics,Huazhong Agricultural University,Wuhan,430070,China [4]Chigene(Beijing)Translational Medical Research Center Co.Ltd.,Beijing,100176,China

出　　处：《Science China(Life Sciences)》2025年第4期1194-1196,共3页中国科学(生命科学英文版)

基　　金：supported by the National Key Research and Development Program of China(2022YFC2703900);the CAMS Innovation Fund for Medical Sciences(2021-I2M-1018);the National Natural Science Foundation of China(82394420 and 82394423);the Theranostics and Translational Research Facility of National Infrastructures for Translational Medicine,Institute of Clinical Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College for the support。

摘　　要：Dear Editor,Neurodevelopmental disorders(NDD)are a group of diseases with high phenotypic heterogeneity characterized by inability in cognition,communication,psychological skills,and motor development.The common types of NDDs include autism spectrum disorder(ASD),attention-deficit/hyperactivity disorder(ADHD),epilepsy,schizophrenia,etc.(Parenti et al.,2020).

关 键 词：diagnostic odyssey autism spectrum disorder asd attention deficit hyperactivity REANALYSIS rnu variants whole genome sequencing neurodevelopmental disorders 

分 类 号：R749[医药卫生—神经病学与精神病学]