title: Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.
abstract: 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 extends the spectrum of known EKV-associated mutations.
authors.affiliation: Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors.forename: C A
authors.initials: CA
authors.lastname: Scott
authors.forename: E A
authors.initials: EA
authors.lastname: O'Toole
authors.forename: M J
authors.initials: MJ
authors.lastname: Mohungoo
authors.forename: A
authors.initials: A
authors.lastname: Messenger
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D000293:Adolescent; D000328:Adult; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D056266:Erythrokeratodermia Variabilis / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D017630:Connexins; C068044:GJB3 protein, human; C076275:connexin 30.3