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Article

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

International journal of pediatric otorhinolaryngology - 1 Mar 2010

Gravina Luis Pablo, Foncuberta María Eugenia, Prieto María Eugenia, Garrido Jeniffer, Barreiro Cristina, Chertkoff Lilien

Abstract excerpt

OBJECTIVE: Mutations in DFNB1 locus, containing GJB2 (connexin 26) and GJB6 (connexin 30) genes, are the most common cause of autosomal recessive non-syndromic hearing loss. More than 100 mutations in GJB2 have been reported worldwide. Two deletions in GJB6, del(GJB6-D13S1830) and del(GJB6-D13S1854), have been found to be frequent in the Spanish population. The aim of this study was to determine the prevalence of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20022641
DOI: 10.1016/j.ijporl.2009.11.014

Genes

GJB6
GJB2

Variants

Provenance

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Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.PMID 20022641Read ↗

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