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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Item Type:Article
Title:Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Creators Name:Dibbens, L.M. and Mullen, S. and Helbig, I. and Mefford, H.C. and Bayly, M.A. and Bellows, S. and Leu, C. and Trucks, H. and Obermeier, T. and Wittig, M. and Franke, A. and Caglayan, H. and Yapici, Z. and Sander, T. and Eichler, E.E. and Scheffer, I.E. and Mulley, J.C. and Berkovic, S.F.
Abstract:Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determine the relative occurrence of sporadic and familial cases and to examine the likelihood of having seizures for individuals with the microdeletion in familial cases. The 15q13.3 microdeletion was identified in 7 of 539 (1.3%) unrelated cases of IGE using quantitative PCR or SNP arrays and confirmed by array comparative genomic hybridization analysis using probes specific to the 15q13.3 region. The inheritance of this lesion was tracked using family studies. Of the seven microdeletions identified in probands, three were de novo, two were transmitted from an unaffected parent and in two cases the parents were unavailable. Non-penetrance of the microdeletion was identified in 4/7 pedigrees and three pedigrees included other family members with IGE who lacked the 15q13.3 deletion. The odds ratio is 68 (95% confidence interval 29-181), indicating a pathogenic lesion predisposing to epilepsy with complex inheritance and incomplete penetrance for the IGE component of the phenotype in multiplex families.
Keywords:Chromosome Deletion, Chromosomes, Human, Pair 15, Cohort Studies, Epilepsy, European Continental Ancestry Group, Genetic Predisposition to Disease, Pedigree
Source:Human Molecular Genetics
Publisher:Oxford University Press
Page Range:3626-3631
Date:1 October 2009
Additional Information:Y. Lee is a member of the control conhort of EPICURE consortium.
Official Publication:https://doi.org/10.1093/hmg/ddp311
PubMed:View item in PubMed

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