Pb. Cserhalmi-friedman et al., Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa, EXP DERMATO, 8(2), 1999, pp. 143-145
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.