Curr Opin Genet Dev

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. 2013 Jun;23(3):310-5.
 doi: 10.1016/j.gde.2013.02.003. Epub 2013 Mar 25.

Recent developments in the

genetics of autism spectrum
disorders
John D Murdoch 1, Matthew W State
Affiliations expand

 PMID: 23537858

 DOI: 10.1016/j.gde.2013.02.003

Abstract
The last several years have marked a turning point in the genetics of autism
spectrum disorder (ASD) due to rapidly advancing genomic technologies. As the
pool of bona fide risk genes and regions accumulates, several key themes have
emerged: these include the important role of rare and de novo mutation, the
biological overlap among so-called syndromic and 'idiopathic' ASD, the elusive
nature of the common variant contribution to risk, and the observation that the
tremendous locus heterogeneity underlying ASD appears to converge on a
relatively small number of key biological processes. Perhaps most striking has been
the revelation that ASD mutations show tremendous phenotypic variability ranging
from social disability to schizophrenia, intellectual disability, language impairment,
epilepsy and typical development.

Copyright © 2013 Elsevier Ltd. All rights reserved.