Journal
HUMAN MUTATION
Volume 36, Issue 7, Pages 689-693Publisher
WILEY-BLACKWELL
DOI: 10.1002/humu.22800
Keywords
UBE3A; autism; copy-number variants; imprinting; neuropsychiatric
Categories
Funding
- University of Toronto McLaughlin Centre, Genome Canada
- Ontario Genomics Institute
- Canadian Institutes for Health Research (CIHR)
- NeuroDevNet doctoral fellowship
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- NIDDK Central Repositories
- NIH Genes, Environment and Health Initiative (GEI) [U01HG004399]
- National Institutes of Health (NIH) [CA87969, CA55075, DK58845]
- Gene Environment Association Studies, GENEVA Coordinating Center [U01 HG004446]
- National Center for Biotechnology Information
- NIH GEI [U01HG004424]
- Division of Aging Biology
- Division of Geriatrics and Clinical Gerontology
- National Institute on Aging
- National Eye Institute
- Center for Inherited Disease Research (CIDR) [1x01 HG005274-01]
- University of Wisconsin Transdisciplinary Tobacco Use Research Center [P50 DA019706, P50 CA084724]
- Collaborative Genetic Study of Nicotine Dependence (COGEND) [P01 CA089392]
- Health ABC Study (HABC) Investigators
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Duplications of chromosome region 15q11-q13 with the maternal imprint are associated with a wide spectrum of neuropsychiatric disorders, including autism spectrum disorders, developmental delay, learning difficulties, schizophrenia, and seizures. These observations suggest there is a dosage-sensitive imprinted gene or genes within this region that explains the increased risk for neuropsychiatric phenotypes. We present a female patient with developmental delay in whom we identified a maternally inherited 129-Kb duplication in chromosome region 15q11.2 encompassing only the UBE3A gene. Expression analysis in cultured fibroblasts confirmed overexpression of UBE3A in the proband, compared with age- and sex-matched controls. We further tested segregation of this duplication in four generations and found it segregated with neuropsychiatric phenotypes. Our study shows for the first time clinical features associated with overexpression of UBE3A in humans and underscores the significance of this gene in the phenotype of individuals with 15q11-q13 duplication. (C) 2015 Wiley Periodicals, Inc.
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