title: Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.
abstract: Epidermolysis bullosa (EB) represents a group of genodermatoses characterized by fragility and easy blistering of the skin. In the dystrophic forms of EB (DEB), blisters occur below the basement membrane, at the level of the anchoring fibrils. In the dominantly inherited forms (DDEB), the predominant type of mutation detected thus far is the substitution of a glycine residue which occurs within the collagenous domain of the molecule characterized by the repeating Gly-X-Y amino acid sequence. In this study, we searched for mutations in DDEB in a family from Hungary, by PCR amplification of segments of COL7A1, followed by heteroduplex analysis. Examination of the PCR fragment corresponding to exon 73 revealed a heteroduplex in affected individuals from the family. Sequence analysis revealed a G-to-A transition at nucleotide 6127 in the triple-helical domain of COL7A1, which converted a glycine residue at amino acid position 2043 to an arginine. This report represents the second incidence of this mutation, G2043R, described first in a family with DDEB from Italy.
authors.affiliation: Department of Dermatology, College of Physicians & Surgeons, Columbia University, New York, NY 10032, USA.
authors.forename: P B
authors.initials: PB
authors.lastname: Cserhalmi-Friedman
authors.forename: S
authors.initials: S
authors.lastname: Karpati
authors.forename: A
authors.initials: A
authors.lastname: Horvath
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005385:Fingers / Q000473:pathology; D005796:Genes / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008297:Male; D009262:Nails / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics / Q000502:physiology; D017422:Sequence Analysis, DNA; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D014034:Toes / Q000473:pathology
chemical_list: D003094:Collagen; D001120:Arginine; D005998:Glycine