ABSTRACT
The incidence of pre-lingual deafness is about 1 in 1000 neonates from which more than 60% of cases are inherited. Deafness is a heterogeneous disorder and may be due to genetic or environmental cause or both. Mutations in the DFNB59 gene encoding pejvakin protein has been very recently shown to cause neural deafness. In the present study, we have conducted type and frequency of the DFNB59 gene mutations in a cohort of 100 non syndromic deaf subjects in Chaharmahal va Bakhtiari province. In this descriptive-lab based study we investigated the frequency of DFNB59 gene mutations in the entire coding exons of the gene. DNA was extracted from the peripheral blood samples following the standard phenol chloroform procedure. DFNB59 gene mutations were investigated using PCR-SSCP/ Heteroduplex Analysis [HA]. The results of PCRSSCP/HA were confirmed by sequencing of exon 7, nested PCR and PCR-RFLP of 3 known DFNB59 mutations. Altogether 3 different gene polymorphisms [793C>G, 793C>T and 874G>A] and one mutation [988delG] were detected in 7, 5, 2 and 1 subjects respectively. Based on our data from the present study and previous study, we conclude that DFNB59 gene mutations have a very low contribution to deafness in patients in Chaharmahal va Bakhtiari province and are not of great clinical importance in this region