title: Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
abstract: The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragility of the skin and mucous membranes. The ultrastructural hallmark of DEB is abnormalities in the anchoring fibrils. A recessively inherited variant, the mitis type of DEB (M-RDEB), is characterized by a mild phenotype, including the absence of mutilating scarring of the hands and feet. In this study, we demonstrate that M-RDEB results from the combination of a premature termination codon mutation in one COL7A1 allele, while other mutation consists of different types of genetic lesions. These results define M-RDEB as a distinct clinical entity at the molecular level.
authors.affiliation: Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: J
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype
chemical_list: D003094:Collagen