the study of slc26a4 gene causing autosomal recessive hearing loss by linkage analysis in a cohort of iranian populations

sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. according to the studies, mutations in gjb2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambiguous. with regard to studies, dfnb4 locus (slc26a4) can be classified as the second cause of hearing loss. so, this study aimed to determine the contribution of this locus in hearing loss as well as the frequency of slc26a4 gene mutations in a population in the west of iran. in this descriptive laboratory study, we included 30 families from the west of iran with no mutation in gjb2 gene. linkage analysis was performed by dfnb4 (slc26a4) molecular markers (str). the families with hearing loss linked to this locus were further analyzed for mutation detection. slc26a4 gene exons were amplified and analyzed using direct dna sequencing. in studied families, 2 families displayed linkage to dfnb4 locus. identified mutations include mutation in exon 5 (c.416 g>t) and in splicing site of exon 7 (ivs-2 a>g or c.919-2 a>g).