Article
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
Human mutation - 1 Sept 2015
Xu Xiaojing, Yang Xiaoxu, Wu Qixi, Liu Aijie, Yang Xiaoling, Ye Adam Yongxin, Huang August Yue, Li Jiarui, Wang Meng, Yu Zhe, Wang Sheng, Zhang Zhichao, Wu Xiru, Wei Liping, Zhang Yuehua
Abstract excerpt
The majority of children with Dravet syndrome (DS) are caused by de novo SCN1A mutations. To investigate the origin of the mutations, we developed and applied a new method that combined deep amplicon resequencing with a Bayesian model to detect and quantify allelic fractions with improved sensitivity. Of 174 SCN1A mutations in DS probands which were considered "de novo" by Sanger sequencing, we identified 15...
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