期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 17, 期 5, 页码 687-692出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.228
关键词
autism; CNV; genetic modifier; learning disability; schizophrenia; phenotypic variability
资金
- Autism Genome Project (AGP)
- Autism Speaks (USA)
- Genome Canada (Canada)
- Health Research Board (HRB
- Ireland)
- Hilibrand Foundation (USA)
- Medical Research Council (UK)
- National Institute of Health (NIH, USA)
- Nancy Laurie Marks Family Foundation
- Simons Foundation
- Wellcome Trust
- Deutsche Forschungsgemeinschaft
- Oxford Partnership Comprehensive Biomedical Research Centre
- Department of Health's NIHR Biomedical Research Centres
- MRC [G0601030] Funding Source: UKRI
- Medical Research Council [G0601030] Funding Source: researchfish
Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare similar to 2Mb 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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