title: Overview of skin diseases linked to connexin gene mutations.
abstract: 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 Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome. Mutations in connexin 30 are correlated with Clouston 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.
authors.affiliation: Clinical Dermatology, Private Practice, Valley Stream, NY, USA.
authors.forename: Lyubov
authors.initials: L
authors.lastname: Avshalumova
authors.forename: Jordan
authors.initials: J
authors.lastname: Fabrikant
authors.forename: Angie
authors.initials: A
authors.lastname: Koriakos
mesh_terms: D000072259:Connexin 26; D000075302:Connexin 30; D018031:Connexin 43 / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012871:Skin Diseases / Q000235:genetics*
chemical_list: D000075302:Connexin 30; D018031:Connexin 43; D017630:Connexins; C491020:GJB6 protein, human; D000072259:Connexin 26; C068044:GJB3 protein, human; C076275:connexin 30.3