title: Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
abstract: Epidermolytic hyperkeratosis (EHK; bullous congenital ichthyosiform erythroderma) is a genodermatosis resulting from mutations in either the keratin 1 (K1) or keratin 10 (K10) genes. It is characterized by erythroderma and blistering at birth, and the development of ichthyotic hyperkeratosis and palmoplantar keratoderma. A wide variety of mutations within the highly conserved helix initiation and termination motifs of the central rod domains of the K1 or K10 genes correlate with the highly variable phenotypic severity observed in EHK. We report a novel missense mutation designated L214P in a large Hispanic pedigree with EHK. The mutation is located in the highly conserved 1A segment of the alpha-helical rod domain. The presence of this mutation underscores the importance of sequence alterations located in the central rod domain in the pathogenesis of EHK.
authors.affiliation: Departments of Dermatology, and Genetics & Development, Columbia University, College of Physicians and Surgeons, New York 10032, USA.
authors.forename: P B
authors.initials: PB
authors.lastname: Cserhalmi-Friedman
authors.forename: R
authors.initials: R
authors.lastname: Squeo
authors.forename: D
authors.initials: D
authors.lastname: Gordon
authors.forename: M
authors.initials: M
authors.lastname: Garzon
authors.forename: P
authors.initials: P
authors.lastname: Schneiderman
authors.forename: M E
authors.initials: ME
authors.lastname: Grossman
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D005260:Female; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000208:ethnology / Q000235:genetics*; D007633:Keratins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: D007633:Keratins