Article
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Human genetics - 1 Aug 2002
Janecke Andreas R, Hirst-Stadlmann Almut, Günther Barbara, Utermann Barbara, Müller Thomas, Löffler Judith, Utermann Gerd, Nekahm-Heis Doris
Abstract excerpt
Mutations of GJB2 (encoding connexin 26) are the most common cause of hearing loss (HL) in different populations, and a broad spectrum of GJB2 mutations has been identified. We screened 204 consecutive patients with non-syndromic sensorineural hearing loss for GJB2 mutations. Causative GJB2mutations were identified in 31 (15.2%) patients, and two common mutations, c.35delG and L90P (c.269T>C), accounted for 72.1%...
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