title: A Meniere's disease gene linked to chromosome 12p12.3.
abstract: Meniere's disease (MD) is characterized by spontaneous attacks of vertigo, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The majority of patients with MD appear sporadic but 5%-13% of the cases have a family history for the disease. The cause of both the sporadic and inherited forms of MD remains unclear despite a number of candidate genes defined from their association with hearing loss. We have performed a genome wide linkage scan on a large Swedish family segregating MD in five generations. Five candidate regions with a lod score of >1 were identified. Two additional families with autosomal dominant MD were analyzed for linkage to these regions and a cumulative Z(max) of 3.46 was obtained for a single region on chromosome 12p. In two of the three families, a shared haplotype was found to extend over 1.7 Mb which suggests a common ancestral origin. Within this region, a single recombination event restricts the candidate region to 463 kb.
authors.affiliation: Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
authors.forename: Joakim
authors.initials: J
authors.lastname: Klar
authors.forename: Carina
authors.initials: C
authors.lastname: Frykholm
authors.forename: Ulla
authors.initials: U
authors.lastname: Friberg
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008575:Meniere Disease / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D021122:Protein Subunits / Q000235:genetics
chemical_list: D021122:Protein Subunits; D019869:Phosphatidylinositol 3-Kinases