✦ LIBER ✦

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

✍ Scribed by Heinz Gabriel; Petra Kupsch; Jürgen Sudendey; Elke Winterhager; Klaus Jahnke; Jürgen Lautermann

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 68 KB
Volume: 17
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1138

No coin nor oath required. For personal study only.

✦ Synopsis

Congenital sensorineural hearing loss affects approximately 1/1,000 live births. Mutations in the gene encoding connexin26 (GJB2) have been described as a major cause of genetic nonsyndromic hearing impairment. Additionally, another gap junction gene, connexin30 (GJB6), was found to be responsible for hereditary hearing loss. We have studied 134 patients with severe to profound hearing loss or deafness and 13 patients with mild to moderate nonsyndromic sensorineural hearing loss in order to evaluate the prevalence of connexin26 and connexin30 mutations in Germany. Mutations in the connexin26 gene were found in 30 patients (22%) with profound to severe hearing impairment whereas only one novel single nucleotide polymorphism ( 396G→ → A) in the connexin30 gene was detected. Among the 13 patients with mild to moderate hearing loss neither mutations in the connexin26 nor in the connexin30 gene could be detected. These results demonstrate that mutations in the connexin26 gene are also a frequent cause of hereditary non-syndromic hearing loss in Germany. Therefore a screening of mutations in the connexin26 gene should be performed in every case of non-syndromic hearing loss of unknown origin. ©2001 Wiley-Liss, Inc.

📜 SIMILAR VOLUMES

GJB2 (connexin 26) mutations are not a m

GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population

✍ Rikkert L. Snoeckx; Bulantrisna Djelantik; Lut Van Laer; Paul Van de Heyning; Gu 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB 👁 2 views

Clinical phenotype and mutations in conn

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss

✍ Cohn, Edward S.; Kelley, Philip M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 2 views

Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1.

High prevalence of the W24X mutation in

High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

✍ Araceli Álvarez; Ignacio del Castillo; Manuela Villamar; Luis A. Aguirre; Anna G 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 2 views

Pyrosequencing for detection of mutation

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

✍ Alessandro Ferraris; Eric Rappaport; Rosa Santacroce; Eleanor Pollak; Ian Krantz 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 359 KB

Hereditary hearing loss (HHL) is one of the most common congenital disorders and is highly heterogeneous. Mutations in the connexin 26 (CX26) gene (GJB2) account for about 20% of all cases of childhood deafness, and approach 50% in documented recessive cases of non-syndromic hearing loss. In additio