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Matos, T.D.; Caria, H.; Simões-Teixeira, H.; Aasen, T.; Dias, O.; Andrea, M.; Kelsell, D.P.; Fialho, G.
Hearing research, 06/2008, Letnik: 240, Številka: 1Journal Article
Mutations in GJB2 gene (encoding connexin 26) are the most common cause of hereditary non-syndromic sensorineural hearing loss (NSSHL) in different populations. The majority of GJB2 mutations are recessive, but a few dominant mutations have been associated with hearing loss either isolated or associated with skin disease. We describe a novel dominant pathogenic GJB2 mutation, identified in a Portuguese family affected with bilateral mild/moderate high-frequency NSSHL. In vitro functional studies demonstrate that the mutant protein (p.M163L) has defective trafficking to the plasma membrane and is associated with increased cell death.
