Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
复制标题
DOI：
10.1016/j.ymgmr.2020.100593
复制
发表时间：
2020-06-01
影响因子：
1.9
通讯作者：
Heussler, Helen S.
中科院分区：
文献类型：
--
作者：
Dawson, Paul A.;Lee, Soohyun;Heussler, Helen S.
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 theANOS1gene 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.
