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Article

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

BMC genetics - 19 Feb 2016

Mikstiene Violeta, Jakaitiene Audrone, Byckova Jekaterina, Gradauskiene Egle, Preiksaitiene Egle, Burnyte Birute, Tumiene Birute, Matuleviciene Ausra, Ambrozaityte Laima, Uktveryte Ingrida, Domarkiene Ingrida, Rancelis Tautvydas, Cimbalistiene Loreta, Lesinskas Eugenijus, Kucinskas Vaidutis, Utkus Algirdas

Abstract excerpt

BACKGROUND: Congenital hearing loss (CHL) is diagnosed in 1 - 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide. The aim of this cross-sectional study was to assess the contribution of the DFNB1 locus containing the GJB2 and GJB6 genes in the development of early...

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Identifiers

PMID: 26896187
DOI: 10.1186/s12863-016-0354-9
PMCID: PMC4761217

Genes

GJB2
GJB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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