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A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex
European Journal of Dermatology. Volume 20, Number 1, 27-9, January-February 2010, Genes and skin
Free Article
Author(s) : Sophie C Flohil, Maria C Bolling, Kristia A Kooi, Henny H Lemmink, Marcel F Jonkman
Summary : 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.
Keywords : epidermolysis bullosa, genodermatosis, keratin

A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex