Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

ABSTRACT: Age-related hearing loss (presbycusis) is a significant problem in the population. The genetic contribution to age-related hearing loss is estimated to be 40%-50%. Gene mutations that cause nonsyndromic progressive hearing loss with early onset may provide insight into the etiology of presbycusis. We have identified four families segregating an autosomal dominant, progressive, sensorineural hearing loss phenotype that has been linked to chromosome 17q25.3. The critical interval containing the causative gene was narrowed to approximately 2 million bp between markers D17S914 and D17S668. Cochlear-expressed genes were sequenced in affected family members. Sequence analysis of the gamma-actin gene (ACTG1) revealed missense mutations in highly conserved actin domains in all four families. These

SUBMITTER: Zhu M 

PROVIDER: S-EPMC1180488 | biostudies-literature | 2003 Nov

REPOSITORIES: biostudies-literature