Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness.

ABSTRACT: Hearing loss is most common form of genetic hearing disorder. Non-syndromic sensory neural autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Mutations in GJB2 gene, which encodes the connexin 26 protein, are major cause of NSRD. The aim of this study is directed towards the mutations caused along the connexin 26 gene using blood samples from nonsyndromic deaf children. The study was conducted on 36 congenitally hearing impaired children who visited to our department with complains of hearing loss and reduced speech and whose age was <10 years with no other congenital anomaly. After a thorough history, clinical examination and all audiological and radiological assessment, blood samples are collected and DNA extraction, PCR and sequencing were done for furt

SUBMITTER: Banjara H 

PROVIDER: S-EPMC4899369 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature