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Article

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

International journal of pediatric otorhinolaryngology - 1 Feb 2015

Kashef Atie, Nikzat Nooshin, Bazzazadegan Niloofar, Fattahi Zohreh, Sabbagh-Kermani Farahnaz, Taghdiri Maryam, Azadeh Batool, Mojahedi Faezeh, Khoshaeen Atefeh, Habibi Haleh, Najmabadi Hossein, Kahrizi Kimia

Abstract excerpt

OBJECTIVE: Hereditary hearing loss is the most common neurosensory disorder in humans. Half of the cases have genetic etiology with extraordinary genetic heterogeneity. Mutations in one gene, GJB2, are the most common cause for autosomal recessive non-syndromic hearing loss (ARNSHL) in many different populations. GJB2 encodes a gap junction channel protein (connexin 26), and is located on DFNB1 locus on...

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Connexin 26
Connexins
Deafness
Genetic Testing
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Sequence Analysis, DNA

Source

Identifiers

PMID: 25555641
DOI: 10.1016/j.ijporl.2014.11.024

Genes

GJB2
GJB6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.PMID 25555641Read ↗

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