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 .

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22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

coats disease

cohen syndrome

congenital diaphragmatic hernia

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erythropoietic protoporphyria

fabry disease

familial mediterranean fever

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inclusion body myositis

kindler syndrome

krabbe disease

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wolf-hirschhorn syndrome

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