Genetic Variation across Phenotypic Severity of Autism

Claudio Toma

doi:10.1016/j.tig.2020.01.005

Genetic Variation across Phenotypic Severity of Autism

Trends Genet. 2020 Apr;36(4):228-231. doi: 10.1016/j.tig.2020.01.005. Epub 2020 Feb 6.

Author

Claudio Toma¹

Affiliation

¹ Neuroscience Research Australia, Sydney, NSW, Australia; School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia; Centro de Biología Molecular 'Severo Ochoa', Universidad Autónoma de Madrid/CSIC, 28049 Madrid, Spain. Electronic address: claudio.toma@cbm.csic.es.

PMID: 32037010
DOI: 10.1016/j.tig.2020.01.005

Abstract

It is still unclear how genetic factors of autism spectrum disorder (ASD) are implicated in the significant clinical heterogeneity ranging from intellectual disability (ID) to high-functioning profiles. Here, evidence from recent genetic studies encompassing common and rare variants are combined to suggest a genetic model that may explain the broad gradient of phenotypic severity observed in ASD.

Keywords: autism spectrum disorder; common variants; gene-truncating alleles; genetics; intellectual disability; next-generation sequencing.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Autism Spectrum Disorder / genetics*
Autism Spectrum Disorder / pathology
Autistic Disorder / genetics*
Autistic Disorder / pathology
Genetic Association Studies
Genetic Predisposition to Disease*
Genetic Variation / genetics
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology