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Novel andDe Novo Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

1998; Elsevier BV; Volume: 111; Issue: 6 Linguagem: Inglês

10.1046/j.1523-1747.1998.00422.x

1523-1747

Fatima Rouan, Leena Pulkkinen, Jouni Uitto, Marcel F. Jonkman, Johann W. Bauer, Peter B. Cserhalmi-Friedman, Angela M. Christiano,

Cell Adhesion Molecules Research

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 The results revealed a glycine substitution mutation in all six families, four of which are novel and previously unpublished.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.