Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome. Issue 9 (24th July 2015)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Human mutation. Volume 36:Issue 9(2015:Sep.)
• Page Start: 861
• Page End: 872
• Publication Date: 2015-07-24
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22819
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22819-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The majority of children with Dravet syndrome (DS) are believed to be caused by de novo SCN1A mutations. Using a new amplicon deep re‐sequencing method that we developed, we found that 8.6% (15 out of 174) of the "de novo" mutations were inherited from undetected parental mosaicism, more often from the father. Higher allelic fractions of the mosaic mutations positively correlated with mild parental epileptic symptoms. Our results highlighted the need for more sensitive detection tools in genetic counseling. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2f6z6txg" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>