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Human Molecular Genetics 2006 15(Review Issue 2):R138-R150; doi:10.1093/hmg/ddl213
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© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Epigenetics of autism spectrum disorders

N. Carolyn Schanen1,2,3,*

1 Center for Pediatric Research, Nemours Biomedical Research, Wilmington, DE 19803, USA , 2 Biological Sciences, University of Delaware, Newark, DE 19716, USA and 3 Jefferson Medical College, Philadelphia, PA 19107, USA

* To whom correspondence should be addressed at:, Nemours Biomedical Research, 1600 Rockland Road, Wilmington, DE 19803, USA. Tel: +1 3026516702; Fax: +1 3026516767; Email: schanen{at}medsci.udel.edu

Received July 14, 2006; Accepted August 1, 2006

The autism spectrum disorders (ASD) comprise a complex group of behaviorally related disorders that are primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally derived duplications of the imprinted domain on chromosome 15q11–13. Thus, parent of origin effects on sharing and linkage to imprinted regions on chromosomes 15q and 7q suggest that these regions warrant specific examination from an epigenetic perspective, particularly because epigenetic modifications do not change the primary genomic sequence, allowing risk epialleles to evade detection using standard screening strategies. This review examines the potential role of epigenetic factors in the etiology of ASD.


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