Display Settings:

Format

Send to:

Choose Destination
Neurobiol Dis. 2010 May;38(2):181-91. doi: 10.1016/j.nbd.2008.08.011. Epub 2008 Sep 18.

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

Author information

  • 1Department of Medical Microbiology and Immunology, University of California, Davis, CA 95616, USA.

Abstract

A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders (ASD). The region is subject to genomic imprinting and the behavioral phenotypes associated with the chromosome 15q11.2-q13 disorders show a parent-of-origin specific effect that suggests that an increased copy number of maternally derived alleles contributes to autism susceptibility. Notably, nonimprinted, biallelically expressed genes within the interval also have been shown to be misexpressed in brains of patients with chromosome 15q11.2-q13 genomic disorders, indicating that they also likely play a role in the phenotypic outcome. This review provides an overview of the phenotypes of these disorders and their relationships with ASD and outlines the regional genes that may contribute to the autism susceptibility imparted by copy number variation of the region.

Copyright 2008 Elsevier Inc. All rights reserved.

PMID:
18840528
[PubMed - indexed for MEDLINE]
PMCID:
PMC2884398
Free PMC Article

Images from this publication.See all images (2)Free text

Fig 1
Figure 2
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Write to the Help Desk