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Mutations in the connexin26/GJB2 gene are the most common event in non‐syndromic hearing loss among the German population
Author(s) -
Gabriel Heinz,
Kupsch Petra,
Sudendey Jürgen,
Winterhager Elke,
Jahnke Klaus,
Lautermann Jürgen
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1138
Subject(s) - biology , genetics , german , hearing loss , gene , event (particle physics) , population , audiology , demography , linguistics , medicine , philosophy , physics , quantum mechanics , sociology
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. Hum Mutat 17:521–522, 2001. © 2001 Wiley‐Liss, Inc.