Abstract
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Human Molecular Genetics |
| Vol/bind | 18 |
| Udgave nummer | 19 |
| Sider (fra-til) | 3626-31 |
| Antal sider | 5 |
| ISSN | 0964-6906 |
| DOI | |
| Status | Udgivet - 2009 |
Bibliografisk note
Keywords: Chromosome Deletion; Chromosomes, Human, Pair 15; Cohort Studies; Epilepsy; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Humans; Male; PedigreeAdgang til dokumentet
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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, Holger; Obermeier, Tanja; Wittig, Michael; Franke, Andre; Caglayan, Hande; Yapici, Zuhal; EPICURE Consortium; Sander, Thomas; Eichler, Evan E; Scheffer, Ingrid E; Mulley, John C; Berkovic, Samuel F; Møller, Rikke Steensbjerre.
I: Human Molecular Genetics, Bind 18, Nr. 19, 2009, s. 3626-31.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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TY - JOUR
T1 - Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
AU - Dibbens, Leanne M
AU - Mullen, Saul
AU - Helbig, Ingo
AU - Mefford, Heather C
AU - Bayly, Marta A
AU - Bellows, Susannah
AU - Leu, Costin
AU - Trucks, Holger
AU - Obermeier, Tanja
AU - Wittig, Michael
AU - Franke, Andre
AU - Caglayan, Hande
AU - Yapici, Zuhal
AU - EPICURE Consortium
AU - Sander, Thomas
AU - Eichler, Evan E
AU - Scheffer, Ingrid E
AU - Mulley, John C
AU - Berkovic, Samuel F
AU - Møller, Rikke Steensbjerre
N1 - Keywords: Chromosome Deletion; Chromosomes, Human, Pair 15; Cohort Studies; Epilepsy; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Humans; Male; Pedigree
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
U2 - 10.1093/hmg/ddp311
DO - 10.1093/hmg/ddp311
M3 - Journal article
C2 - 19592580
VL - 18
SP - 3626
EP - 3631
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 19
ER -