A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP; MIM no 131960) is an autosomal dominant disorder characterized by skin blistering at acral sites, punctate palmo-plantar hyperkeratoses, and mottled pigmentation of the trunk and proximal extremities. Histologically and ultrastructurally, the blistering in EBS-MP closely resembles that found in other EBS subtypes. This is consistent with a disorder of the basal keratinocyte cytoskeleton, in which several groups have found disease-causing mutations within the central rod domains of keratins 5 and 14. We have identified a C --> T transition at base position 71 of K5 causing a P24L substitution in a sporadic case of EBS-MP. Recently, this same mutation was identified in two unrelated families with EBS-MP.
Irvine
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AD
Department of Medical Genetics, The Queen's University of Belfast, Northern Ireland, United Kingdom.
McKenna
K E
KE
Jenkinson
H
H
Hughes
A E
AE
D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000737:chemistry* / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D010859:Pigmentation Disorders / Q000150:complications*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D017433:Protein Structure, Secondary; D017434:Protein Structure, Tertiary
D007633:Keratins