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Whole-genome sequencing identifies novel genes for autism in Chinese trios

Science China(Life Sciences) 2024年第11期67卷 2368-2381页

作者： Suhua Chang Jia Jia Liu Yilu Zhao Tao Pang Xiangyu Zheng Zhirui Song Anyi Zhang Xuping Gao Lingxue Luo Yanqing Guo Jing Liu Li Yang Lin Lu Peking University Sixth Hospital Peking University Institute of Mental HealthNHC Key Laboratory of Mental Health(Peking University)National Clinical Research Center for Mental Disorders(Peking University Sixth Hospital)Beijing 100191China Chinese Academy of Medical Sciences Research Unit(No.2018RU006) Peking UniversityBeijing 100191China School of Nursing Peking UniversityBeijing 100191China Wuhan Biobank Wuhan 430075China National Institute on Drug Dependence Peking UniversityBeijing 100191China

Autism spectrum disorder(ASD)is a neurodevelopmental disorder with high genetic heritability but *** understanding its genetics requires whole-genome sequencing(WGS),but the ASD studies utilizing WGS data in Chinese population are *** this study,we present a WGS study for 334 individuals,including 112 ASD patients and their non-ASD *** identified 146 de novo variants in coding regions in 85 cases and 60 inherited variants in coding *** integrating these variants with an association model,we identified 33 potential risk genes(Pvariants on the gene expression and found 12 genes in the individuals with the related variants had relatively biased *** further presented the clinical phenotypes of the proband carrying the risk genes in both our samples and Caucasian samples to show the effect of the risk genes on *** variants in noncoding regions,a total of 74 de novo variants and 30 inherited variants were predicted as pathogenic with high confidence,which were mapped to specific genes or regulatory *** number of de novo variants found in patient was significantly associated with the parents’ages at the birth of the child,and gender with *** also identified small de novo structural variants in ASD *** results in this study provided important evidence for understanding the genetic mechanism of ASD.

关键词： autism whole-genome sequencing de novo variants inherited variants SNV structural variants

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