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.
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Acknowledgements
This paper is dedicated to the memory of Professor Annemarie Poustka, who was the founder and head of the Division of Molecular Genome Analysis at the DKFZ. She was an inspiring scientist and a wonderful person.
We thank Dalila Pinto and the Autism Genome Project (AGP) for CNV data from the initial cohort. The main funders of the AGP are Autism Speaks (USA), Genome Canada (Canada), the Health Research Board (HRB; Ireland), the Hilibrand Foundation (USA), the Medical Research Council (UK) and the National Institute of Health (NIH, USA). We also thank Ghazala Mirza (Genomics laboratory, WTCHG) for performing the Illumina Infinium genotyping, Ernesto Lowy (Bioinformatics, WTCHG) for help with computational data analysis and Janine Lamb for critical comments on the paper. Local funding was from the Nancy Laurie Marks Family Foundation, Simons Foundation, the Wellcome Trust and Deutsche Forschungsgemeinschaft. ESA and SJLK were supported by the Oxford Partnership Comprehensive Biomedical Research Centre with funding from the Department of Health's NIHR Biomedical Research Centres funding scheme; the views expressed in this publication are those of the authors and not necessarily those of the Department of Health.
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Pagnamenta, A., Wing, K., Sadighi Akha, E. et al. A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 17, 687–692 (2009). https://doi.org/10.1038/ejhg.2008.228
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DOI: https://doi.org/10.1038/ejhg.2008.228
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