"deafness –associated connexin 26 gene (gjb2) mutations in iranian population"

mutations in the gjb2 gene at the dfnb1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (arnshl) in many populations. a single mutation, at position 35 (35delg) accounts for approximately 30-63% of mutations in white populations with a carrier frequency of 1.5-2.5% in most european, north american and mediterranean populations. in this study we have investigated the prevalence of the gjb2 gene mutations using direct sequencing in 43 presumed arnshl subjects from 34 families in an iranian population. eleven different genetic variants were identified. gjb2-related deafness mutations (35delg, 235delc, w24x, r184p and ivs1+1g>a) were found in 9 of 34 families (26.5%). the 35delg was the most common mutation found in 5 of 34 families (14.7%). we found one novel variant (–3517g>a) in the upstream region to the gene. the mutation frequency found in this study is lower than other ethnic groups with european ancestry, but it is indicating that mutation in gjb2 in iranian population has contribution to arnshl. we have also developed a simple and accurate nested pcr assay to screen the 35delg mutation in 250 unrelated unaffected iranian individual (controls). no 35delg heterozygous was found in the control population.