Article
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Nature communications - 8 Nov 2016
Wang Tianyun, Guo Hui, Xiong Bo, Stessman Holly A F, Wu Huidan, Coe Bradley P, Turner Tychele N, Liu Yanling, Zhao Wenjing, Hoekzema Kendra, Vives Laura, Xia Lu, Tang Meina, Ou Jianjun, Chen Biyuan, Shen Yidong, Xun Guanglei, Long Min, Lin Janice, Kronenberg Zev N, Peng Yu, Bai Ting, Li Honghui, Ke Xiaoyan, Hu Zhengmao, Zhao Jingping, Zou Xiaobing, Xia Kun, Eichler Evan E
Abstract excerpt
Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios). We report an 11-fold increase in the odds of DN LGD mutations compared with expectation under an exome-wide neutral model of mutation. In aggregate,...
Topics
- Asian People
- Autism Spectrum Disorder
- Cohort Studies
- DNA Mutational Analysis
- Exome
- Genetic Predisposition to Disease
- Geography
- Humans
- Inheritance Patterns