title: A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
abstract: We have identified a single base change in exon 4 of the type I keratin gene which results in the replacement of a methionine for an arginine residue at codon 272 in an Irish family displaying an autosomal dominant simplex (Koebner) form of epidermolysis bullosa (EB). This family had previously provided tentative evidence for linkage to genetic markers on chromosome 1q. The mutation cosegregates with the disease, producing a lod score of 4.8 at theta = 0.
authors.affiliation: Department of Genetics, Trinity College, Dublin, Ireland.
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: D M
authors.initials: DM
authors.lastname: Sheils
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: R
authors.initials: R
authors.lastname: Kumar-Singh
authors.forename: P F
authors.initials: PF
authors.lastname: Kenna
authors.forename: F C
authors.initials: FC
authors.lastname: Mansergh
authors.forename: S A
authors.initials: SA
authors.lastname: Jordan
authors.forename: M
authors.initials: M
authors.lastname: Young
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D004247:DNA; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008715:Methionine / Q000235:genetics; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation
chemical_list: D007633:Keratins; D004247:DNA; D001120:Arginine; D008715:Methionine