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Article

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.

Clinical and experimental dermatology - 1 Jan 2011

Scott C A, O'Toole E A, Mohungoo M J, Messenger A, Kelsell D P

Abstract excerpt

Erythrokeratoderma variabilis (EKV) is characterized by fixed hyperkeratotic plaques and transient erythema. Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV. We report one novel mutation in Cx31 and one recurrent mutation in Cx30.3 in two different families. One novel rare sequence variant of unknown clinical significance was also identified. This finding...

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Source

Identifiers

PMID: 21188847
DOI: 10.1111/j.1365-2230.2010.03945.x

Genes

GJB3
GJB4

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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Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.PMID 21188847Read ↗

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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.Semantic proximity Read ↗

Novel mutation of connexin 31 causing erythrokeratoderma variabilis.Semantic proximity Read ↗

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.Semantic proximity Read ↗

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.Semantic proximity Read ↗

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.Semantic proximity Read ↗

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