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Linking Autism Risk Genes to Disruption of Cortical Development

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impairments in social communication and social interaction, and the presence of repetitive behaviors and/or restricted interests. In the past few years, large-scale whole-exome sequencing and genome-wide assoc...

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Autores principales: Garcia-Forn, Marta, Boitnott, Andrea, Akpinar, Zeynep, De Rubeis, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7698947/
https://www.ncbi.nlm.nih.gov/pubmed/33218123
http://dx.doi.org/10.3390/cells9112500
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author Garcia-Forn, Marta
Boitnott, Andrea
Akpinar, Zeynep
De Rubeis, Silvia
author_facet Garcia-Forn, Marta
Boitnott, Andrea
Akpinar, Zeynep
De Rubeis, Silvia
author_sort Garcia-Forn, Marta
collection PubMed
description Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impairments in social communication and social interaction, and the presence of repetitive behaviors and/or restricted interests. In the past few years, large-scale whole-exome sequencing and genome-wide association studies have made enormous progress in our understanding of the genetic risk architecture of ASD. While showing a complex and heterogeneous landscape, these studies have led to the identification of genetic loci associated with ASD risk. The intersection of genetic and transcriptomic analyses have also begun to shed light on functional convergences between risk genes, with the mid-fetal development of the cerebral cortex emerging as a critical nexus for ASD. In this review, we provide a concise summary of the latest genetic discoveries on ASD. We then discuss the studies in postmortem tissues, stem cell models, and rodent models that implicate recently identified ASD risk genes in cortical development.
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spelling pubmed-76989472020-11-29 Linking Autism Risk Genes to Disruption of Cortical Development Garcia-Forn, Marta Boitnott, Andrea Akpinar, Zeynep De Rubeis, Silvia Cells Review Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impairments in social communication and social interaction, and the presence of repetitive behaviors and/or restricted interests. In the past few years, large-scale whole-exome sequencing and genome-wide association studies have made enormous progress in our understanding of the genetic risk architecture of ASD. While showing a complex and heterogeneous landscape, these studies have led to the identification of genetic loci associated with ASD risk. The intersection of genetic and transcriptomic analyses have also begun to shed light on functional convergences between risk genes, with the mid-fetal development of the cerebral cortex emerging as a critical nexus for ASD. In this review, we provide a concise summary of the latest genetic discoveries on ASD. We then discuss the studies in postmortem tissues, stem cell models, and rodent models that implicate recently identified ASD risk genes in cortical development. MDPI 2020-11-18 /pmc/articles/PMC7698947/ /pubmed/33218123 http://dx.doi.org/10.3390/cells9112500 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Garcia-Forn, Marta
Boitnott, Andrea
Akpinar, Zeynep
De Rubeis, Silvia
Linking Autism Risk Genes to Disruption of Cortical Development
title Linking Autism Risk Genes to Disruption of Cortical Development
title_full Linking Autism Risk Genes to Disruption of Cortical Development
title_fullStr Linking Autism Risk Genes to Disruption of Cortical Development
title_full_unstemmed Linking Autism Risk Genes to Disruption of Cortical Development
title_short Linking Autism Risk Genes to Disruption of Cortical Development
title_sort linking autism risk genes to disruption of cortical development
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7698947/
https://www.ncbi.nlm.nih.gov/pubmed/33218123
http://dx.doi.org/10.3390/cells9112500
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