作者
Jinyu Wu, Ping Yu, Xin Jin, Xiu Xu, Jinchen Li, Zhongshan Li, Mingbang Wang, Tao Wang, Xueli Wu, Yi Jiang, Wanshi Cai, Junpu Mei, Qingjie Min, Qiong Xu, Bingrui Zhou, Hui Guo, Ping Wang, Wenhao Zhou, Zhengmao Hu, Yingrui Li, Tao Cai, Yi Wang, Kun Xia, Yong-Hui Jiang, Zhong Sheng Sun
发表日期
2018/10/20
期刊
Journal of genetics and genomics
卷号
45
期号
10
页码范围
527-538
出版商
Elsevier
简介
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity. In this study, we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD, including de novo mutations, inherited variants, copy number variants (CNVs) and genomic structural variants. A higher mutation rate (Poisson test, P < 2.2 × 10−16) in exonic (1.37 × 10−8) and 3′-UTR regions (1.42 × 10−8) was revealed in comparison with that of whole genome (1.05 × 10−8). Using an integrated model, we identified 87 potentially risk genes (P < 0.01) from 4832 genes harboring various rare deleterious variants, including CHD8 and NRXN2, implying that the disorders may be in favor to multiple-hit. In particular, frequent rare inherited mutations of several microcephaly-associated genes (ASPM, WDR62, and ZNF335) were found …
引用总数
20192020202120222023202452714132
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