GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

✍ Scribed by Hossein Najmabadi; Robert A. Cucci; Solmaz Sahebjam; Nafiseh Kouchakian; Mohammad Farhadi; Kimia Kahrizi; Sanaz Arzhangi; Naiimeh Daneshmandan; Khalil Javan; Richard J.H. Smith

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 142 KB
• Volume: 19
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9033

✦ Synopsis

Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to the autosomal recessive nonsyndromic deafness (ARNSD) load in the Iranian population. One hundred sixty eight persons from 83 families were studied. GJB2-related deafness was diagnosed in 9 families (4, 35delG homozygotes; 3, 35delG compound heterozygotes; 1, W24X homozygote; 1, non-35delG compound heterozygote). The carrier frequency of the 35delG allele in this population was ~1% (1/83). Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran.