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A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome.

International journal of dermatology - 1 Oct 2009

Neoh Ching Yin, Chen Huijia, Ng See Ket, Lane Ellen Birgitte, Common John Edmund Armourer

Abstract excerpt

BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by generalized erythrokeratotic plaques, sensorineural hearing loss, and vascularizing keratitis. Cutaneous changes and hearing loss typically present in early childhood, whereas ocular symptoms present later. Mutations in the connexin (Cx) 26 gene, GJB2, are now established to underlie many of the affected...

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Connexin 26
Connexins
Deafness
Ichthyosis
Keratitis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19785089
DOI: 10.1111/j.1365-4632.2009.04136.x

Genes

GJB2

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A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome.PMID 19785089Read ↗

Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.Semantic proximity Read ↗

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.Semantic proximity Read ↗

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.Semantic proximity Read ↗

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndromeSemantic proximity Read ↗

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.Semantic proximity Read ↗

Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.Semantic proximity Read ↗

KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.Semantic proximity Read ↗

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.Semantic proximity Read ↗

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.Semantic proximity Read ↗

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