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

Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Hande, Obermeier, Zuhal, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, EPICURE Consortium, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C. and Berkovic, Samuel F. 2009, Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance, Human molecular genetics, vol. 18, no. 19, pp. 3626-3631, doi: 10.1093/hmg/ddp311.

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Title Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Author(s) Dibbens, Leanne M.
Mullen, Saul
Helbig, Ingo
Mefford, Heather C.
Bayly, Marta A.
Bellows, Susannah
Leu, Costin
Trucks, Hande
Obermeier, Zuhal
Wittig, Michael
Franke, Andre
Caglayan, Hande
Yapici, Zuhal
EPICURE Consortium
Sander, Thomas
Eichler, Evan E.
Scheffer, Ingrid E.
Mulley, John C.
Berkovic, Samuel F.
Journal name Human molecular genetics
Volume number 18
Issue number 19
Start page 3626
End page 3631
Total pages 6
Publisher Oxford University Press
Place of publication Oxford, Eng.
Publication date 2009-10
ISSN 0964-6906
1460-2083
Keyword(s) Science & Technology
Life Sciences & Biomedicine
Biochemistry & Molecular Biology
Genetics & Heredity
Summary 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.
Language eng
DOI 10.1093/hmg/ddp311
Indigenous content off
Field of Research 06 Biological Sciences
11 Medical and Health Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2009, The Author
Persistent URL http://hdl.handle.net/10536/DRO/DU:30111755

Document type: Journal Article
Collections: Faculty of Health
School of Psychology
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