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

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 compl...

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Bibliographic Details
Main Authors: Paul A. Dawson, Soohyun Lee, Adam D. Ewing, Johannes B. Prins, Helen S. Heussler
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Autism
Kallmann syndrome
Whole-genome sequencing
Secondary findings
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300392

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http://www.sciencedirect.com/science/article/pii/S2214426920300392

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