Genetic linkage analysis of DFNB59 loci involved in autosomal recessive non-syndromic hearing loss (ARNSHL) in western provinces of Iran

Bilateral sensorineural hearing loss is one of the most frequent congenital defects, and it has the prevalence of one in thousand among the infants. The most cases of hearing impairment are nonsyndromic and about 80 percent of patients with sensorineural HE show authosomal recessive pattern. ARSNL is a very heterogenic defect for over 70 loci and 50 genes have been found. In this study, in order to prove the prevalence of DFNB59 mutations, we examined DFNB59 mutations in 54 families from 3 provinces of Iran including Hamedan, Kohgiluye& Boveir Ahmad and Chaharmahal Bakhtiari. The gene (PJVK) in this locus encodes Pejvakin protein (PJVK) and causes nerve stimulation to conduct. Selected families in this study have consanguinity and at least have two patients with the defect; they also are negative in having the GJB2 mutations. Six markers were selected for this locus and linkage analysis was performed. However, after examining different families, it was revealed that none of them had linkage to the DFNB59 locus. Therefore, this study suggests that that Pejvakin mutations might not play an important role in causing hearing loss in these provinces.