文章基本信息

标题：Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
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作者：Paul A. Dawson ; Soohyun Lee ; Adam D. Ewing 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2020
卷号：23
页码：1-3
DOI：10.1016/j.ymgmr.2020.100593
出版社：Elsevier B.V.
摘要：We report an actionable secondary finding from whole-genome sequencing (WGS) of a 10-year-old boy with autism. WGS identified non-synonymous variants in several genes, including a nonsense mutation in the ANOS1 gene which is an X-linked cause of Kallmann syndrome. WGS can provide insights into complex genetic disorders such as autism, and actionable incidental findings can offer the potential for therapeutic interventions.
关键词：Autism ; Kallmann syndrome ; Whole;genome sequencing ; Secondary findings