title: Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
abstract: We report monozygous triplets affected with dystrophic epidermolysis bullosa (DEB). The female triplets were delivered by Caesarean section and skin fragility of each child, which was partly induced by trauma, was apparent from the third to fourth day of life. Clinically, the triplets were equally affected. Mutation analysis in this family revealed a novel recessively expressed glycine substitution, G2031S, in exon 73 of the collagen VII gene COL7A1. Most glycine substitutions in this gene region encoding for the triple helical domain of collagen VII are associated with milder, dominantly inherited phenotypes. By contrast, the novel point mutation of this study is clinically silent in the heterozygous state and leads to a severe DEB subtype when homozygous.
authors.affiliation: Department of Dermatology, Ullevål Hospital and University of Oslo, Oslo, Norway. eli.nordal@ulleval.no
authors.forename: E J
authors.initials: EJ
authors.lastname: Nordal
authors.forename: S
authors.initials: S
authors.lastname: Mecklenbeck
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: J
authors.initials: J
authors.lastname: Skranes
authors.forename: L
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: T
authors.initials: T
authors.lastname: Gedde-Dahl
mesh_terms: D003094:Collagen / Q000235:genetics; D003241:Consanguinity; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D005998:Glycine / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D014310:Triplets
chemical_list: D003094:Collagen; D005998:Glycine