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Article

Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.

International journal of pediatric otorhinolaryngology - 1 Feb 2011

Hayashi Chieri, Funayama Manabu, Li Yuanzhe, Kamiya Kazusaku, Kawano Atsushi, Suzuki Mamoru, Hattori Nobutaka, Ikeda Katsuhisa

Abstract excerpt

OBJECTIVE: GJB2 (gap junction protein, beta 2, 26kDa: connexin 26) is a gap junction protein gene that has been implicated in many cases of autosomal recessive non-syndromic deafness. Point and deletion mutations in GJB2 are the most frequent cause of non-syndromic deafness across racial groups. To clarify the relation between profound non-syndromic deafness and GJB2 mutation in Japanese children, we performed...

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Source

Identifiers

PMID: 21112098
DOI: 10.1016/j.ijporl.2010.11.001

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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