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Hear Res. 2008 Jun;240(1-2):87-92. doi: 10.1016/j.heares.2008.03.004. Epub 2008 Apr 3.

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.

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  • 1Centro de Genética e Biologia Molecular, Faculdade de Ciências da Universidade de Lisboa, 1749-016 Lisboa, Portugal.

Abstract

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.

[PubMed - indexed for MEDLINE]
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