title: Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
abstract: The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen gene (COL7A1). In dominant DEB, a characteristic genetic lesion is a glycine substitution mutation within the collagenous domain of the protein. In this study, we have examined the molecular basis of six new families in which the proband has clinical features and/or ultrastructural findings consistent with DEB. The results revealed a glycine substitution mutation in all six families, four of which are novel and previously unpublished. In three families with clinically unaffected parents, de novo mutations G2043R and G2040V were found. These results emphasize the predominance of glycine substitution mutations in dominant DEB, and indicate that in some cases the phenotype is due to de novo dominant mutations.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
authors.forename: F
authors.initials: F
authors.lastname: Rouan
authors.forename: L
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: M F
authors.initials: MF
authors.lastname: Jonkman
authors.forename: J W
authors.initials: JW
authors.lastname: Bauer
authors.forename: P B
authors.initials: PB
authors.lastname: Cserhalmi-Friedman
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
authors.forename: J
authors.initials: J
authors.lastname: Uitto
mesh_terms: D019943:Amino Acid Substitution; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica; D005799:Genes, Dominant; D005817:Genetic Counseling; D005998:Glycine / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D017354:Point Mutation
chemical_list: D003094:Collagen; D005998:Glycine