Linking Autism Risk Genes to Disruption of Cortical Development.

Cells
Marta Garcia-FornSilvia De Rubeis

Abstract

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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Citations

Mar 23, 2021·Autism Research : Official Journal of the International Society for Autism Research·Jordi PijuanJanet Hoenicka
Jun 18, 2021·Wiley Interdisciplinary Reviews. RNA·Yongkyu ParkMladen-Roko Rasin
Jul 27, 2021·Neuroscience and Biobehavioral Reviews·Chrystiane V A ToscanoJoana M Gaspar
Aug 5, 2021·Biological Psychiatry·Andrea BoitnottSilvia De Rubeis

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Methods Mentioned

BETA
exome sequencing
scRNAseq
RNAseq
sumoylation

Related Concepts

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