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

[epidermolysis bullosa simplex]

Epidermolysis bullosa simplex is an autosomal dominant inherited skin blistering disorder caused by mutations in the genes KRT 5 or KRT 14 coding for the basal epidermal keratins 5 and 14 , respectively . We describe a novel heterozygous pathogenic missense mutation (KRT 5 :c .596 A >T , p .Lys 199 M et ) 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 (KRT 14 :c .88 C >T , p .Arg 30 C ys ), that did not segregate with the phenotype .