title: Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
abstract: Epidermolytic hyperkeratosis (EHK) is a hereditary skin disorder typified by blistering due to cytolysis. One in 100,000 individuals is affected by this autosomal-dominant disease. The onset of the disease phenotype is typically at birth. Histological and ultrastructural examination of the epidermis shows a thickened stratum corneum and tonofilament clumping around the nucleus of suprabasal keratinocytes. Linkage studies localized the disease genes on chromosomes 12q and 17q which contain the type II and type I keratin gene clusters. Recently, several point mutations in the genes encoding the suprabasal keratins, K1 and K10, have been reported in EHK patients. We have investigated a large kindred affected by EHK and identified a new point mutation in the 2B region of keratin 1 (I107T), resulting from a T to C transition in codon 478.
authors.affiliation: Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Arin
authors.forename: M A
authors.initials: MA
authors.lastname: Longley
authors.forename: E H
authors.initials: EH
authors.lastname: Epstein
authors.forename: J A
authors.initials: JA
authors.lastname: Rothnagel
authors.forename: D R
authors.initials: DR
authors.lastname: Roop
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D007633:Keratins / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D007633:Keratins