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Overview of skin diseases linked to connexin gene mutations
Author(s) -
Avshalumova Lyubov,
Fabrikant Jordan,
Koriakos Angie
Publication year - 2014
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.12062
Subject(s) - connexin , palmoplantar keratoderma , medicine , keratoderma , phenotype , ichthyosis , dyskeratosis , mutation , dysplasia , genetics , gene , dermatology , hyperkeratosis , pathology , biology , intracellular , gap junction
Mutations in skin‐expressed connexin genes, such as connexins 26, 30, 30.3, 31, and 43, have been linked to several human hereditary diseases with multiple organ involvement. Mutations in connexin 26 are linked to diseases including V ohwinkel syndrome, keratitis‐ichthyosis deafness, and hystrix‐like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with C louston‐like phenotype, and B art– P umphrey syndrome. Mutations in connexin 30 are correlated with C louston syndrome. Connexin 30.3 and 31 mutations lead to erythrokeratoderma variabilis, and mutations in connexin 43 are correlated with oculodentodigital dysplasia. Provided is a review of these mutations and related skin disorders.