Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets

We report monozygous triplets affected with dystrophic epidermolysis bullos a (DEB). The female triplets were delivered by Caesarean section and skin f ragility of each child, which was partly induced by trauma, was apparent fr om the third to fourth day of life. Clinically, the triplets were equally a ffected. Mutation analysis in this family revealed a novel recessively expr essed glycine substitution, G2031S, in exon 73 of the collagen VII gene COL 7A1. Most glycine substitutions in this gene region encoding for the triple helical domain of collagen VII are associated with milder, dominantly inhe rited phenotypes. By contrast, the novel point mutation of this study is cl inically silent in the heterozygous state and leads to a severe DEB subtype when homozygous.