A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus
| Autor: | C. Van Broeckhoven, W. Van Paesschen, Kristl Claeys, Liesbet Deprez, Jurgen Del-Favero, L Claes, T Van Dyck, P. De Jonghe, Dirk Goossens, Dominique Audenaert |
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| Rok vydání: | 2005 |
| Předmět: |
Genetic Markers
Male Linkage disequilibrium Positional cloning Short Report Locus (genetics) Biology Linkage Disequilibrium Seizures Febrile Epilepsy Gene mapping SCN1B Genetics medicine Humans Genetic Predisposition to Disease Genetics (clinical) Family Health Recombination Genetic Genome Genetic heterogeneity medicine.disease Pedigree Haplotypes Chromosomes Human Pair 2 Epilepsy syndromes Female Lod Score |
| Zdroj: | Journal of medical genetics |
| ISSN: | 1468-6244 0022-2593 |
| Popis: | Generalised epilepsy with febrile seizures plus (GEFS+) is a clinically and genetically heterogeneous epilepsy syndrome. Using positional cloning strategies, mutations in SCN1B, SCN1A, and GABRG2 have been identified as genetic causes of GEFS+. In the present study, we describe a large four generation family with GEFS+ in which we performed a 10 cM density genome-wide scan. We obtained conclusive evidence for a novel GEFS+ locus on chromosome 2p24 with a maximum two point logarithm of the odds (LOD) score of 4.22 for marker D2S305 at zero recombination. Fine mapping and haplotype segregation analysis in this family delineated a candidate region of 3.24 cM, corresponding to a physical distance of 4.2 Mb. Linkage to 2p24 was confirmed (p = 0.007) in a collection of 50 nuclear and multiplex families with febrile seizures and epilepsy. Transmission disequilibrium testing and association studies provided further evidence (p |
| Databáze: | OpenAIRE |
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