Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment

✍ Scribed by Susan Kupka; Simone Braun; Susanne Aberle; Birgit Haack; Margret Ebauer; Ulrike Zeißler; Hans-Peter Zenner; Nikolaus Blin; Markus Pfister

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 197 KB
• Volume: 20
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9044

✦ Synopsis

Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, 35delG (30delG), accounts for up to 70% of all analyzed European patients with autosomal recessive inherited HI and 10% of patients with HI of unknown origin, respectively. We screened 188 control individuals and 342 German patients with non-syndromic sporadic HI for the 35delG, compound heterozygosity and other GJB2 mutations by PCR, restriction enzyme based screening, SSCP and sequencing. In all patients, non-progressive hearing impairment varied from moderate to profound involving all frequencies. This study revealed one novel silent mutation (438C/T), three novel gene variants resulting in amino acid substitutions (K112E, T123S, K223R) and two novel HI-related mutations (I82M, 313del14).