title: Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
abstract: The dystrophic forms of epidermolysis bullosa result from different types and combinations of mutations in the type VII collagen gene (COL7A1). We describe a novel glycine substitution arising as a de novo mutation in a proband with a clinically mild form of dystrophic epidermolysis bullosa and no family history of any blistering disease. This report underscores the predominance of glycine substitutions in the dominantly inherited forms of dystrophic form epidermolysis bullosa, and heightens our awareness of unusual modes of inheritance. This information is critical for accurate genetic counseling and determination of recurrence risk in families with dystrophic EB.
authors.affiliation: Department of Dermatology and Genetics & Development, College of Physicians & Surgeons, Columbia University, New York, NY 10032, USA.
authors.forename: P B
authors.initials: PB
authors.lastname: Cserhalmi-Friedman
authors.forename: J
authors.initials: J
authors.lastname: Grossman
authors.forename: S
authors.initials: S
authors.lastname: Karpati
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
authors.forename: A
authors.initials: A
authors.lastname: Horvath
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005998:Glycine; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009692:Nucleic Acid Heteroduplexes / Q000097:blood / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D009692:Nucleic Acid Heteroduplexes; D003094:Collagen; D004247:DNA; D005998:Glycine