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Type: Journal article
Title: Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Author: Mullen, S.
Carvill, G.
Bellows, S.
Bayly, M.
Berkovic, S.
Dibbens, L.
Scheffer, I.
Mefford, H.
Citation: Neurology, 2013; 81(17):1507-1514
Publisher: American Academy of Neurology
Issue Date: 2013
ISSN: 0028-3878
1526-632X
Statement of
Responsibility: 
Saul A. Mullen, Gemma L. Carvill, Susannah Bellows, Marta A. Bayly, Samuel F. Berkovic, Leanne M. Dibbens, Ingrid E. Scheffer, Heather C. Mefford
Abstract: Objective: We examined whether copy number variants (CNVs) were more common in those with a combination of intellectual disability (ID) and genetic generalized epilepsy (GGE) than in those with either phenotype alone via a case-control study. Methods: CNVs contribute to the genetics of multiple neurodevelopmental disorders with complex inheritance, including GGE and ID. Three hundred fifty-nine probands with GGE and 60 probands with ID-GGE were screened for GGE-associated recurrent microdeletions at 15q13.3, 15q11.2, and 16p13.11 via quantitative PCR or loss of heterozygosity. Deletions were confirmed by comparative genomic hybridization (CGH). ID-GGE probands also had genome-wide CGH. Results: ID-GGE probands showed a significantly higher rate of CNVs compared with probands with GGE alone, with 17 of 60 (28%) ID-GGE probands having one or more potentially causative CNVs. The patients with ID-GGE had a 3-fold-higher rate of the 3 GGE-associated recurrent microdeletions than probands with GGE alone (10% vs 3%, p = 0.02). They also showed a high rate (13/60, 22%) of rare CNVs identified using genome-wide CGH. Conclusions: This study shows that CNVs are common in those with ID-GGE with recurrent deletions at 15q13.3, 15q11.2, and 16p13.11, particularly enriched compared with individuals with GGE or ID alone. Recurrent CNVs are likely to act as risk factors for multiple phenotypes not just at the population level, but also in any given individual. Testing for CNVs in ID-GGE will have a high diagnostic yield in a clinical setting and will inform genetic counseling.
Keywords: Chromosome Disorders
Rights: © 2013 American Academy of Neurology
RMID: 0030036643
DOI: 10.1212/WNL.0b013e3182a95829
Grant ID: http://purl.org/au-research/grants/nhmrc/400121
Appears in Collections:Medicine publications

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