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A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.

Authors :
HAMID, MOHAMMAD
KARIMIPOOR, MORTEZA
CHALESHTORI, MORTEZA HASHEMZADEH
AKBARI., MOHAMMAD TAGHI
Source :
Journal of Genetics. Dec2009, Vol. 88 Issue 3, p359-362. 4p. 2 Charts, 1 Graph.
Publication Year :
2009

Abstract

The article discusses a study that aims to evaluate the type and frequency of gap junction beta 2 (GJB2) gene mutations in Iranian patients with non-syndromic hereditary hearing loss (NSHHL). It notes mutations in connexin 26 are responsible for nearly 50% of autosomal-recessive hearing loss cases. Among the mutations that were diagnosed in 16 deaf patients are 35delG, R127H and a novel 355-357delGAG. According to the study, the most common deafness-causing mutation in the Iranian population is the 35delG mutation.

Details

Language :
English
ISSN :
00221333
Volume :
88
Issue :
3
Database :
Academic Search Index
Journal :
Journal of Genetics
Publication Type :
Academic Journal
Accession number :
47733058
Full Text :
https://doi.org/10.1007/s12041-009-0054-6