Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome

Paul A. Dawson; Soohyun Lee; Adam D. Ewing; Johannes B. Prins; Helen S. Heussler

doi:10.1016/j.ymgmr.2020.100593

Molecular Genetics and Metabolism Reports (Jun 2020)

Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome

Paul A. Dawson,
Soohyun Lee,
Adam D. Ewing,
Johannes B. Prins,
Helen S. Heussler

Affiliations

Paul A. Dawson: Mater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia; Correspondence to: P. A. Dawson, Mater Research Institute, University of Queensland, Level 4 Translational Research Institute, Woolloongabba, Queensland 4102, Australia.
Soohyun Lee: Mater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia
Adam D. Ewing: Mater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia
Johannes B. Prins: Mater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia
Helen S. Heussler: Mater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia; Children's Health Queensland Hospital and Health Service, Queensland Children's Hospital, South Brisbane, Queensland 4101, Australia; Correspondence to: H. S. Heussler, Queensland Children's Hospital, South Brisbane, Queensland 4101, Australia.

DOI: https://doi.org/10.1016/j.ymgmr.2020.100593
Journal volume & issue: Vol. 23

Abstract

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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.

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: https://www.sciencedirect.com/journal/molecular-genetics-and-metabolism-reports

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