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Article

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Genes - 21 Jul 2020

Zytsar Marina V, Bady-Khoo Marita S, Danilchenko Valeriia Yu, Maslova Ekaterina A, Barashkov Nikolay A, Morozov Igor V, Bondar Alexander A, Posukh Olga L

Abstract excerpt

The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from the Tyva Republic and Altai Republic (Southern Siberia, Russia) and...

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Identifiers

PMID: 32708339
DOI: 10.3390/genes11070833
PMCID: PMC7397271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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