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

Sophie C. Flohil, Maria C. Bolling, Kristia A. Kooi, Henny H. Lemmink, Marcel F. Jonkman*

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

2 Citaten (Scopus)


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.

Originele taal-2English
Pagina's (van-tot)27-29
Aantal pagina's3
TijdschriftEuropean journal of dermatology
Nummer van het tijdschrift1
StatusPublished - 2010

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