title: Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
abstract: Epidermolysis bullosa simplex (EBS) is a blistering disorder affecting the basal layer of the epidermis usually inherited in an autosomal dominant fashion. Most cases are caused by mutations in the genes encoding keratin 5 (K5) and keratin 14 (K14) and are characterized by cytolysis within the basal layer of the epidermis. We report a patient manifesting the Dowling-Meara variant of EBS in whom we characterized a cytosine to thymine transition at codon 125 (R125C) in K14. This missense mutation is located at the amino terminus of the helical rod domain of the keratin 14 molecule, resulting in defective pairing with K5, thereby disrupting keratin tonofibril integrity.
authors.affiliation: Department of Dermatology, St George Hospital, University of New South Wales, Sydney, Australia.
authors.forename: Champi
authors.initials: C
authors.lastname: Premaratne
authors.forename: Sandra
authors.initials: S
authors.lastname: Klingberg
authors.forename: Ian
authors.initials: I
authors.lastname: Glass
authors.forename: Kellie
authors.initials: K
authors.lastname: Wright
authors.forename: Dédée
authors.initials: D
authors.lastname: Murrell
mesh_terms: D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D053547:Keratin-14; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012720:Severity of Illness Index; D012867:Skin / Q000648:ultrastructure
chemical_list: C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins; D001120:Arginine; D003545:Cysteine