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- Title
A 15q13.3 microdeletion segregating with autism.
- Authors
Pagnamenta, Alistair T; Wing, Kirsty; Sadighi Akha, Elham; Knight, Samantha J L; Bölte, Sven; Schmötzer, Gabriele; Duketis, Eftichia; Poustka, Fritz; Klauck, Sabine M; Poustka, Annemarie; Ragoussis, Jiannis; Bailey, Anthony J; Monaco, Anthony P; International Molecular Genetic Study of Autism Consortium
- Abstract
Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare approximately 2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.
- Publication
European journal of human genetics : EJHG, 2009, Vol 17, Issue 5, p687
- ISSN
1476-5438
- Publication type
Journal Article
- DOI
10.1038/ejhg.2008.228