作者
Daniel Benjamin Callaghan, Sanja Rogic, Powell Patrick Cheng Tan, Kristina Calli, Ying Qiao, Robert Baldwin, Matthew Jacobson, Manuel Belmadani, Nathan Holmes, Chang Yu, Yanchen Li, Yingrui Li, Franz‐Edward Kurtzke, Boris Kuzeljevic, An Yi Yu, Melissa Hudson, Amy JM Mcaughton, Yuchen Xu, Alexandre Dionne‐Laporte, Simon Girard, Ping Liang, Evica Rajcan Separovic, Xudong Liu, Guy Rouleau, Paul Pavlidis, ME Suzanne Lewis
发表日期
2019/9
期刊
Clinical genetics
卷号
96
期号
3
页码范围
199-206
出版商
Blackwell Publishing Ltd
简介
Autism spectrum disorder (ASD) is a highly heterogeneous genetic disorder with strong evidence of ASD‐association currently available only for a small number of genes. This makes it challenging to identify the underlying genetic cause in many cases of ASD, and there is a continuing need for further discovery efforts. We sequenced whole genomes of 119 deeply phenotyped ASD probands in order to identify likely pathogenic variants. We prioritized variants found in each subject by predicted damage, population frequency, literature evidence, and phenotype concordance. We used Sanger sequencing to determine the inheritance status of high‐priority variants where possible. We report five novel de novo damaging variants as well as several likely damaging variants of unknown inheritance; these include two novel de novo variants in the well‐established ASD gene SCN2A. The availability of rich phenotypic …
引用总数
202020212022202320247582
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