[Screening of GJB2 Mutations in autosomal recessive non-syndromic kashan deaf patients]

ABSTRACT

Hearing loss is the most common sensory neural defect in humans, affecting 1 of 1000/2000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80% of non-syndromic hearing loss [NSHL]. Mutations in GJB2, encoding Connexin26, are major cause of inherited deafness in the most populations. We studied 34 probands from 34 families with autosomal recessive nonsyndromic hearing loss [ARNSHL] in Kashan populasions. Mutations Screening of GJB2 was performed by Amplification Refractory Mutation System [ARMS]-PCR for detection of 35delG and then we analyzed all samples excluding 35delG homozygote by DHPLC and Direct Sequencing.We identified 2 mutations [35delG 2.9%, 312de114 2.9%] and 2 polymorphisms V1531 in this study. Regards to our data,GJB2 mutations are very low in comparison with other part of world and finally, further studies need to find other genes that have a causal role in NSHL in this population