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Genetics of Autism


Autism Spectrum Disorders (ASDs) are a group of clinically heterogeneous conditions all characterized by fundamental impairments in reciprocal social communication. There is incontrovertible evidence for a genetic contribution, derived both from family and twin studies. However, the specific allelic architecture, or nature of the genetic variation underlying ASDs, remains a matter of some debate.

Until fairly recently, the majority of gene discovery efforts have focused on the contribution of polymorphisms that are common (greater than 5% allele frequency) in the population. However, there are also multiple lines of evidence illustrating the importance of rare variation for this spectrum of disorders.

This presentation addresses the fundamental properties of genetic variation, describe the logic underlying the common variant-common disease and the rare variant common disease hypotheses, discuss the importance of structural as well as sequence variation, highlight recent results, and describe the way in these findings have offered initial insights into molecular mechanisms underlying ASD and at the same time challenged the current diagnostic nosology in psychiatry.

Featured Reading

Featured reading for the Genetics of Autism class lecture comes from:

El-Fishawy P and State MW. The Genetics of Autism: Key issues, recent findings and clinical implications. Psychiatr Clin North Am. 2010 Mar;33(1):83-105.

A recent comprehensive review of the Autism literature that addresses both the common variant-common disease and rare variant-common disease hypotheses with regard to ASD.

Read the abstract online at or read it in full at the Elsevier Article Locator.