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Article

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

European journal of dermatology : EJD - 1 Jan 2000

Kellermayer Richard, Keller Matthew, Ratajczak Paulina, Richardson Elizabeth, Harangi Ferenc, Mérei Eszter, Melegh Béla, Kosztolányi György, Richard Gabriele

Abstract excerpt

Gap junctions are formed by a polygenic family of more than 20 different connexin proteins. They mediate intercellular communication via the direct exchange of ions, metabolites and secondary messengers, thus controlling and coordinating cellular activities. Mutations in five gap junction genes, including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are known to cause inherited hearing...

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Source

Identifiers

PMID: 15757815

Genes

GJA1
GJB2
GJB3
GJB4
GJB6

Variants

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.PMID 15757815Read ↗

Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.Semantic proximity Read ↗

Connexin mutations in hearing loss, dermatological and neurological disorders.Semantic proximity Read ↗

Mutations in connexin genes and disease.Semantic proximity Read ↗

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.Semantic proximity Read ↗

Syndromic and non-syndromic disease-linked Cx43 mutations.Semantic proximity Read ↗

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.Semantic proximity Read ↗

Key functions for gap junctions in skin and hearing.Semantic proximity Read ↗

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.Semantic proximity Read ↗

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.Semantic proximity Read ↗

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.Semantic proximity Read ↗

A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.Semantic proximity Read ↗

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