Study of DFNB59 gene mutations in exon 2 and 4 in association with deafness using PCR-RFLP in Chaharmahal va Bakhtiari, Iran

Hearing loss is a heterogeneous disorder and may be due to genetic or environmental cause. A novel gene, DFNB59 encods pejvakin has been very recently shown to cause neural deafness. This study aims to determine the frequency of DFNB59 gene mutations in exon 2 and 4 in 100 patients negative for GJB2 mutations in Chaharmahal va Bakhtiari province. In this descriptive-lab based study we investigated the frequency of DFNB59 gene mutations in exon 2 and 4 of the gene. DNA was extracted from all patients following the standard phenol chloroform procedure. The two mutations T54I and R183W was determined using PCR-RFLP procedure. The AF1III restriction enzyme digested the related restriction site in all of the 100 samples examined. Also, SsiI restriction site were digested in all of the 100 samples. These data indicate that no T54I and R183W mutations were not detected in deaf individuals tested. Based on 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. However, we examined only 2 DFNB59 mutations in 100 patients and to determine the role of this gene in developing deafness the entire coding region and promoter of the gene need to be investigated in more samples.