A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
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.
Department of Dermatology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, the Netherlands.
Sophie C
SC
Flohil
Maria C
MC
Bolling
Kristia A
KA
Kooi
Henny H
HH
Lemmink
Marcel F
MF
Jonkman
D000328:Adult; D019943:Amino Acid Substitution; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D006801:Humans; D053547:Keratin-14 / Q000235:genetics; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic
D053547:Keratin-14; D053555:Keratin-5