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A 15q13.3 microdeletion segregating with autism

Lookup NU author(s): Professor Jeremy Parr

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Abstract

Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare ~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 metadata

Author(s): Pagnamenta AT, Wing K, Sadighi AE, Knight SJ, Bolte S, Schmotzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium (IMGSAC)

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2009

Volume: 17

Issue: 5

Pages: 687-692

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ejhg.2008.228

DOI: 10.1038/ejhg.2008.228

PubMed id: 19050728


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