[Relative frequency of 35delG mutation in GJB2 gene in autosomal recessive non-syndromic hearing loss [ARNSHL] patients in Kerman population]

ABSTRACT

Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 [Gap Junction Beta-2] gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this stand was to study the frequency of one mutation [35delG] of GJB2 gene in Kerman non-syndromic deaf population. For this purpose, 130 chromosomes from 65 patients were studied and 35delG mutation was diagnosed in 3 [2.3%] chromosomes [one patient was homozygote and the other one was heterozygote]. This rate of frequency is significantly higher comparing to that in the whole population of Iran