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Article

Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?

Genes - 27 Feb 2020

Shinagawa Jun, Moteki Hideaki, Nishio Shin-Ya, Noguchi Yoshihiro, Usami Shin-Ichi

Abstract excerpt

The GJB2 gene is the most frequent cause of congenital or early onset hearing loss worldwide. In this study, we investigated the haplotypes of six GJB2 mutations frequently observed in Japanese hearing loss patients (i.e., c.235delC, p.V37I, p.[G45E; Y136X], p.R143W, c.176_191del, and c.299_300delAT) and analyzed whether the recurring mechanisms for each mutation are due to founder effects or mutational hot...

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Identifiers

PMID: 32120898
DOI: 10.3390/genes11030250
PMCID: PMC7140863

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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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