European Journal of Dermatology
MENUA new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex Volume 20, numéro 1, January-February 2010
Illustrations
Department of Dermatology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
- Mots-clés : epidermolysis bullosa, genodermatosis, keratin
- DOI : 10.1684/ejd.2010.0804
- Page(s) : 27-9
- Année de parution : 2010
Epidermolysis bullosa simplex is an autosomal dominant inherited skin blistering disorder caused by mutations in the genes KRT5 or KRT14 coding for the basal epidermal keratins 5 and 14, respectively. We describe a novel heterozygous pathogenic missense mutation (KRT5:c.596A>T, p.Lys199Met) in a Hindoestan male with early onset localized epidermolysis bullosa simplex that segregated with the phenotype in the family. We also found a new heterozygous amino acid substitution polymorphism in the variable keratin 14 N-terminal head domain (KRT14:c.88C>T, p.Arg30Cys), that did not segregate with the phenotype.