Type

Journal Article

Authors

Sean Ennis
Naisha Shah
Ricardo Segurado
Andrew Green
Jillian Casey
Judith Conroy
Regina Regan
Lambertus Klei
Alistair T. Pagnamenta
Richard James Leon Anney
and 1 others

Subjects

Psychiatry

Topics
social communication autism linkage global impact copy number variation reveals communication and interaction intellectual disability spectrum disorders hidden markov model loci ancestry snp genotyping data autism spectrum disorders

Functional impact of global rare copy number variation in autism spectrum disorders (2010)

Abstract The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours(1). Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability(2). Although ASDs are known to be highly heritable (similar to 90%)(3), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P=0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P=3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
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Full list of authors on original publication

Sean Ennis, Naisha Shah, Ricardo Segurado, Andrew Green, Jillian Casey, Judith Conroy, Regina Regan, Lambertus Klei, Alistair T. Pagnamenta, Richard James Leon Anney and 1 others

Experts in our system

1
Sean Ennis
University College Dublin
Total Publications: 52
 
2
Naisha Shah
University College Dublin
Total Publications: 7
 
3
Ricardo Segurado
University College Dublin
Total Publications: 59
 
4
Andrew Green
University College Dublin
Total Publications: 25
 
5
Jillian Casey
University College Dublin
Total Publications: 24
 
6
Judith Conroy
University College Dublin
Total Publications: 24
 
7
Regina Regan
University College Dublin
Total Publications: 10
 
8
Richard Anney
Trinity College Dublin
Total Publications: 38