Article
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
Human molecular genetics - 1 Aug 1999
Fransen E, Verstreken M, Verhagen W I, Wuyts F L, Huygen P L, D'Haese P, Robertson N G, Morton C C, McGuirt W T, Smith R J, Declau F, Van de Heyning P H, Van Camp G
Abstract excerpt
We report the genetic analysis of one large Belgian and two small Dutch families with autosomal dominant non-syndromic progressive sensorineural hearing loss associated with vestibular dysfunction. Linkage studies in the Belgian family mapped the disease to the DFNA9 locus on chromosome 14. Mutation analysis of the COCH gene, which is responsible for DFNA9, revealed a missense mutation changing a highly conserved...
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