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

NEUROBIOLOGY OF DISEASE

卷:38

Review

Hogart, Amber¹  Wu, David²  LaSalle, Janine M.¹  Schanen, N. Carolyn^2,3,4 

[1] Univ Calif Davis, Dept Med Microbiol & Immunol, Davis, CA 95616 USA

[2] Univ Delaware, Dept Biol Sci, Newark, DE 19716 USA

[3] Alfred I duPont Hosp Children, Nemours Biomed Res, Wilmington, DE 19803 USA

[4] Thomas Jefferson Univ, Jefferson Med Coll, Dept Pediat, Philadelphia, PA 19107 USA

关键词: Autism;    Autism spectrum disorders;    Prader-Willi syndrome;    Angelman syndrome;    Interstitial duplication chromosome 15;    Isodicentric chromosome 15;    Low copy repeats;    Imprinting;   

DOI  :  10.1016/j.nbd.2008.08.011

来源: Elsevier

【 摘 要 】

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. (C) 2008 Elsevier Inc. All rights reserved.

【 授权许可】

Free