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Indian Journal of Otolaryngology and Head & Neck Surgery

Published in:

01-06-2016 | Original Article

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

Authors: Hansa Banjara, Varsha Mungutwar, Neha Swarnkar, Pradeep Patra

Published in: Indian Journal of Otolaryngology and Head & Neck Surgery | Issue 2/2016

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 further genetic analysis. Annotated and documented autosomal recessive (pathogenic) mutations were observed in 57 % of NSRD cases. The frequency of pathogenic mutation was commonest for Ins G between nucleotide 30–35 (40 % of cases) followed by Del T at nucleotide 59(20 % of cases).These two common mutations (singly or doubly) were present in 51.4 % of cases. Present study helps to screen the families with hearing impaired children, which will facilitate the development of strategies for diagnosis and treatment of these common genetic disorders.

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Title: Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness
Authors: Hansa Banjara
Varsha Mungutwar
Neha Swarnkar
Pradeep Patra
Publication date: 01-06-2016
Publisher: Springer India
Published in: Indian Journal of Otolaryngology and Head & Neck Surgery / Issue 2/2016
Print ISSN: 2231-3796
Electronic ISSN: 0973-7707
DOI: https://doi.org/10.1007/s12070-015-0950-4

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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