Mutation Identification in Exon 10 of SLC26A4 Gene in Individuals with Hearing Loss in Guilan Province

摘要

Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene. The aim of this study was to evaluate mutations in?exon 10 of SLC26A4 gene in individuals with hearing loss in Guilan province. Materials and Methods: In this descriptive cross-sectional study, blood samples were collected from 31 individuals with hearing loss from Guilan province. After DNA extraction, exon 10 of SLC26A4 gene was amplified by PCR method and underwent direct sequencing. Results: In this study, 22 women (71%) and 9 men (29%) with hearing loss were found and in five patients (16%) was detected mutation in exon 10 of SLC26A4 gene. Four patients had base substitution in codon 399 (c.1195TC, p.S399P) as heterozygous. Also, in a patient was found a nucleotide deletion in codon 399 (c.1197delT, p.S399SfsX31) as homozygous. Discussion: It seems that mutation in SLC26A4 is one of the important reasons of deafness in hearing loss individual in Guilan province.