Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4356009 | Hearing Research | 2008 | 6 Pages |
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.
Keywords
Related Topics
Life Sciences
Neuroscience
Sensory Systems
Authors
T.D. Matos, H. Caria, H. Simões-Teixeira, T. Aasen, O. Dias, M. Andrea, D.P. Kelsell, G. Fialho,