title: Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests.
abstract: Epidermolysis bullosa with muscular dystrophy (EB-MD) is a distinct variant of EB caused by mutations in the plectin gene (PLEC1). In this study, we have examined two Japanese patients with EB-MD using heteroduplex scanning or a protein truncation test for mutation detection analysis. The results revealed that both patients were compound heterozygotes for novel PLEC1 mutations (Q1936X/Q1053X and R2421X/12633ins4), which all caused premature termination of translation of the corresponding polypeptides. These cases, which demonstrate the utility of two complementary mutation detection strategies, add to the repertoire of plectin mutations in EB-MD.
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Takizawa
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: F
authors.initials: F
authors.lastname: Rouan
authors.forename: M
authors.initials: M
authors.lastname: Kawai
authors.forename: M
authors.initials: M
authors.lastname: Udono
authors.forename: L
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: T
authors.initials: T
authors.lastname: Nishikawa
authors.forename: J
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000328:Adult; D002648:Child; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005091:Exons; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D051190:Plectin; D016133:Polymerase Chain Reaction
chemical_list: D007381:Intermediate Filament Proteins; C495332:PLEC protein, human; D051190:Plectin