Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa

The dystrophic forms of epidermolysis bullosa result from different types a nd combinations of mutations in the type VII collagen gene (COL7A1). We des cribe a novel glycine substitution arising as a de novo mutation in a proba nd with a clinically mild form of dystrophic epidermolysis bullosa and no f amily history of any blistering disease. This report underscores the predom inance of glycine substitutions in the dominantly inherited forms of dystro phic form epidermolysis bullosa, and heightens our awareness of unusual mod es of inheritance. This information is critical for accurate genetic counse ling and determination of recurrence risk in families with dystrophic EB.