Copy-number variations associated with autism spectrum disorder. (August 2008)

• Record Type: Journal Article
• Authors: Kakinuma, Hiroaki; Sato, Hitoshi
• Is Part Of: Pharmacogenomics. Volume 9:Number 8(2008)
• Page Start: 1143
• Page End: 1154
• Publication Date: 2008-08
• Subjects: array comparative genomic hybridization -- autism spectrum disorder -- ASD -- copy-number variation -- CNV -- de novo CNV -- inherited CNV -- multiplex family -- recurrent CNV -- simplex family -- SNP -- SNP genotyping array; Pharmacogenomics -- Periodicals; 615.1
• DOI: 10.2217/14622416.9.8.1143
• Languages: English
• ISSNs: 1462-2416

Abstract

Autism spectrum disorder (ASD) is a clinically heterogeneous developmental disorder with a strong genetic component. Rare genetic disorders and various chromosomal abnormalities are thought to account for approximately 10% of people with ASD. The etiology of the remaining cases remains unknown. Recent advances in array-based technology have increased the resolution in detecting submicroscopic deletions and duplications, referred to as copy-number variations. ASD-associated copy-number variations, which are considered to be present in individuals with ASD but not in unaffected individuals, have been extensively investigated. These data will provide us with an opportunity not only to search for genes causing or contributing to ASDs but also to understand the genetics of ASD.