Article
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.
Human mutation - 1 Aug 2017
Dou Yanmei, Yang Xiaoxu, Li Ziyi, Wang Sheng, Zhang Zheng, Ye Adam Yongxin, Yan Linlin, Yang Changhong, Wu Qixi, Li Jiarui, Zhao Boxun, Huang August Yue, Wei Liping
Abstract excerpt
The roles and characteristics of postzygotic single-nucleotide mosaicisms (pSNMs) in autism spectrum disorders (ASDs) remain unclear. In this study of the whole exomes of 2,361 families in the Simons Simplex Collection, we identified 1,248 putative pSNMs in children and 285 de novo SNPs in children with detectable parental mosaicism. Ultra-deep amplicon resequencing suggested a validation rate of 51%. Analyses of...
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