GJB2 mutations: Passage through Iran

• Published in: American journal of medical genetics. Part A Vol. 133A; no. 2; pp. 132 - 137
• Main Authors: Najmabadi, Hossein, Nishimura, Carla, Kahrizi, Kimia, Riazalhosseini, Yasser, Malekpour, Mahdi, Daneshi, Ahmad, Farhadi, Mohammad, Mohseni, Marzieh, Mahdieh, Nejat, Ebrahimi, Ahmad, Bazazzadegan, Niloofar, Naghavi, Anoosh, Avenarius, Matthew, Arzhangi, Sanaz, Smith, Richard J.H.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2005
• Subjects: 35delG; Connexin 26; Connexins - genetics; DNA - chemistry; DNA - genetics; DNA Mutational Analysis; Family Health; Female; Gene Frequency; Genetic Testing; Genotype; Geography; GJB2 mutations; Hearing Loss - epidemiology; Hearing Loss - genetics; hereditary hearing loss; Humans; Iran; Iran - epidemiology; Male; Mutation; Prevalence; Δ(GJB6-D13S1830)

Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe‐to‐pr...