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Trends Cogn Sci. 2011 Sep;15(9):409-16. doi: 10.1016/j.tics.2011.07.003. Epub 2011 Aug 18.

Genetics of autism spectrum disorders.

Author information

1
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA. dhg@mednet.ucla.edu

Abstract

Characterized by a combination of abnormalities in language, social cognition and mental flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly referred to as autism spectrum disorder (ASD). Several dozen ASD susceptibility genes have been identified in the past decade, collectively accounting for 10-20% of ASD cases. These findings, although demonstrating that ASD is etiologically heterogeneous, provide important clues about its pathophysiology. Diverse genetic and genomic approaches provide evidence converging on disruption of key biological pathways, many of which are also implicated in other allied neurodevelopmental disorders. Knowing the genes involved in ASD provides us with a crucial tool to probe both the specificity of ASD and the shared neurobiological and cognitive features across what are considered clinically distinct disorders, with the goal of linking gene to brain circuits to cognitive function.

PMID:
21855394
PMCID:
PMC3691066
DOI:
10.1016/j.tics.2011.07.003
[Indexed for MEDLINE]
Free PMC Article

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