Somatic Mosaicism and Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants were shown to contribute to ASD risk. These germline mutations are present in all of the cells of an affected individual and can be de...

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Autor principal:	Alissa M. D’Gama
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	autism spectrum disorder somatic mosaicism postzygotic mutation mosaic variant next-generation sequencing genetic diagnosis Genetics QH426-470
Acceso en línea:	https://doaj.org/article/048cf26884fd4c07b6b7103b182ce1b5
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spelling	oai:doaj.org-article:048cf26884fd4c07b6b7103b182ce1b52021-11-25T17:40:58ZSomatic Mosaicism and Autism Spectrum Disorder10.3390/genes121116992073-4425https://doaj.org/article/048cf26884fd4c07b6b7103b182ce1b52021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1699https://doaj.org/toc/2073-4425Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants were shown to contribute to ASD risk. These germline mutations are present in all of the cells of an affected individual and can be detected in any tissue, including clinically accessible DNA sources such as blood or saliva. In recent years, studies have also implicated de novo somatic variants in ASD risk. These somatic mutations arise postzygotically and are present in only a subset of the cells of an affected individual. Depending on the developmental time and progenitor cell in which a somatic mutation occurs, it may be detectable in some tissues and not in others. Somatic mutations detectable at relatively low sequencing coverage in clinically accessible tissues are suggested to contribute to 3–5% of simplex ASD diagnoses, and “brain limited” somatic mutations have been identified in postmortem ASD brain tissue. Somatic mutations likely represent the genetic diagnosis in a proportion of otherwise unexplained individuals with ASD, and brain limited somatic mutations can be used as markers to discover risk genes, cell types, brain regions, and cellular pathways important for ASD pathogenesis and to potentially target for therapeutics.Alissa M. D’GamaMDPI AGarticleautism spectrum disordersomatic mosaicismpostzygotic mutationmosaic variantnext-generation sequencinggenetic diagnosisGeneticsQH426-470ENGenes, Vol 12, Iss 1699, p 1699 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	autism spectrum disorder somatic mosaicism postzygotic mutation mosaic variant next-generation sequencing genetic diagnosis Genetics QH426-470
spellingShingle	autism spectrum disorder somatic mosaicism postzygotic mutation mosaic variant next-generation sequencing genetic diagnosis Genetics QH426-470 Alissa M. D’Gama Somatic Mosaicism and Autism Spectrum Disorder
description	Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants were shown to contribute to ASD risk. These germline mutations are present in all of the cells of an affected individual and can be detected in any tissue, including clinically accessible DNA sources such as blood or saliva. In recent years, studies have also implicated de novo somatic variants in ASD risk. These somatic mutations arise postzygotically and are present in only a subset of the cells of an affected individual. Depending on the developmental time and progenitor cell in which a somatic mutation occurs, it may be detectable in some tissues and not in others. Somatic mutations detectable at relatively low sequencing coverage in clinically accessible tissues are suggested to contribute to 3–5% of simplex ASD diagnoses, and “brain limited” somatic mutations have been identified in postmortem ASD brain tissue. Somatic mutations likely represent the genetic diagnosis in a proportion of otherwise unexplained individuals with ASD, and brain limited somatic mutations can be used as markers to discover risk genes, cell types, brain regions, and cellular pathways important for ASD pathogenesis and to potentially target for therapeutics.
format	article
author	Alissa M. D’Gama
author_facet	Alissa M. D’Gama
author_sort	Alissa M. D’Gama
title	Somatic Mosaicism and Autism Spectrum Disorder
title_short	Somatic Mosaicism and Autism Spectrum Disorder
title_full	Somatic Mosaicism and Autism Spectrum Disorder
title_fullStr	Somatic Mosaicism and Autism Spectrum Disorder
title_full_unstemmed	Somatic Mosaicism and Autism Spectrum Disorder
title_sort	somatic mosaicism and autism spectrum disorder
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/048cf26884fd4c07b6b7103b182ce1b5
work_keys_str_mv	AT alissamdgama somaticmosaicismandautismspectrumdisorder
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Somatic Mosaicism and Autism Spectrum Disorder

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