Analysis of the SLC26A4 and CDH23 mutations in Iranian hearing loss patients

(1) Introduction: non-syndromic hearing loss (NSHL) is an autosomal recessive disease with incidence at least 1.9 per 1000 infants at birth. Efficient molecular diagnosis needs a detailed knowledge about genes and mutations involved in NSHL patients for individual populations. Today, several genes have been studied in Iranian population; whereas some other genes such as SLC26A4 and CDH23 genes are yet to be fully analyzed. (2) Methods and materials: we are used allele-specific polymerase chain reaction (PCR) for detection of five mutations include c.719C> T and c.6085C> T in CDH23 gene, and IVS7-2A> G, c.1975G> C, and c.2168A> G in SLC26A4 gene in 100 patients with autosomal-recessive NSHL, originating from Eastern-Azerbaijan and Khorasan province, were screened.(3) Results: In all samples, none of mentioned mutations could be identified. The results were checked by sequencing in 15 samples and the absence of these mutations was validated. (4) Conclusion: It seems that although the precise portion made by such mutations needs to be defined using a larger patient cohort, the present data show that these mutations in the CDH23 and SLC26A4 genes are not important causes of autosomal-recessive NSHL in Iranian population.

Keywords:

hearing loss , CDH23 , SLC26A4 , Iranian population.