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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Autores principales: Dawson, Paul A., Lee, Soohyun, Ewing, Adam D., Prins, Johannes B., Heussler, Helen S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200310/
https://www.ncbi.nlm.nih.gov/pubmed/32382505
http://dx.doi.org/10.1016/j.ymgmr.2020.100593
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author Dawson, Paul A.
Lee, Soohyun
Ewing, Adam D.
Prins, Johannes B.
Heussler, Helen S.
author_facet Dawson, Paul A.
Lee, Soohyun
Ewing, Adam D.
Prins, Johannes B.
Heussler, Helen S.
author_sort Dawson, Paul A.
collection PubMed
description 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.
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spelling pubmed-72003102020-05-07 Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome Dawson, Paul A. Lee, Soohyun Ewing, Adam D. Prins, Johannes B. Heussler, Helen S. Mol Genet Metab Rep Short Communication 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. Elsevier 2020-04-29 /pmc/articles/PMC7200310/ /pubmed/32382505 http://dx.doi.org/10.1016/j.ymgmr.2020.100593 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Dawson, Paul A.
Lee, Soohyun
Ewing, Adam D.
Prins, Johannes B.
Heussler, Helen S.
Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
title Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
title_full Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
title_fullStr Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
title_full_unstemmed Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
title_short Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
title_sort whole genome investigation of an atypical autism case identifies a novel anos1 mutation with subsequent diagnosis of kallmann syndrome
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200310/
https://www.ncbi.nlm.nih.gov/pubmed/32382505
http://dx.doi.org/10.1016/j.ymgmr.2020.100593
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