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Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes

引用

Journal of Genetics and Genomics 2021年第4期48卷 312-323页

作者： Tao Wang Yi Zhang Liqui Liu Yan Wang Huiqian Chen Tianda Fan Jinchen Li Kun Xia Zhongsheng Sun Center for Medical Genetics&Hunan Key Laboratory of Medical Genetics School of Life SciencesCentral South UniversityChangshaHunan 410083China Beijing Institutes of Life Science Chinese Academy of SciencesBeijing 100101China diagenes precision medicine Beijing 102600China National Clinical Research Centre for Geriatric Disorders Department of GeriatricsXiangya HospitalCentral South UniversityChangshaHunan 410083China Shanghai Adeptus Biotechnology Shanghai 200126China Institute of Genomic medicine Wenzhou Medical UniversityWenzhouZhejiang 325035China Department of Neurology Xiangya HospitalCentral South UniversityChangsha Hunan410083China CAS Center for Excellence in Brain Science and Intelligences Technology(CEBSIT) Shanghai 200031China School of Basic Medical Science Central South UniversityChangshaHunan410083China CAS Center for Excellence in Biotic Interactions University of Chinese Academy of SciencesBeijing 100049China State Key Laboratory of Integrated Management of Pest Insects and Rodents Chinese Academy of SciencesBeijing 100101China

Neurodevelopmental disorders(NDDs)are a set of complex disorders characterized by diverse and cooccurring clinical *** genetic contribution in patients with NDDs remains largely ***,we sequence 519 NDD-related genes in 3,195 Chinese probands with neurodevelopmental phenotypes and identify 2,522 putative functional mutations consisting of 137 de novo mutations(DNMs)in 86 genes and 2,385 rare inherited mutations(RIMs)with 22 X-linked hemizygotes in 13 genes,2 homozygous mutations in 2 genes and 23 compound heterozygous mutations in 10 ***,the DNMs of16,807 probands with NDDs are retrieved from public datasets and combine in an integrated analysis with the mutation data of our Chinese NDD probands by taking 3,582 in-house controls of Chinese origin as *** prioritize 26 novel candidate ***,six of these genes d ITSN1,UBR3,CADM1,RYR3,FLNA,and PLXNA3 d preferably contribute to autism spectrum disorders(ASDs),as demonstrated by high co-expression and/or interaction with ASD genes confirmed via rescue experiments in a mouse ***,these genes are differentially expressed in the ASD cortex in a significant manner and involved in ASD-associated ***,our study expands the genetic spectrum of Chinese NDDs,further facilitating both basic and translational research.

关键词： De novo mutations X-linked variants Rare inherited variants Homozygous mutations Neurodevelopmental disorders Autism spectrum disorders Candidate genes

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