A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

Abstract

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.

• Authors: A D Irvine, K E McKenna, H Jenkinson, A E Hughes
• Journal: The Journal of investigative dermatology (J Invest Dermatol) Vol. 108 Issue 5 Pg. 809-10 (May 1997) ISSN: 0022-202X [Print] United States
• PMID: 9129237 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Keratins

Topics

• Epidermolysis Bullosa Simplex (complications, etiology, genetics)
• Female
• Humans
• Keratins (chemistry, genetics)
• Male
• Microsatellite Repeats
• Molecular Sequence Data
• Pedigree
• Phenotype
• Pigmentation Disorders (complications)
• Point Mutation
• Polymorphism, Genetic
• Protein Structure, Secondary
• Protein Structure, Tertiary