Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for geneticcounseling
F. Rouan et al., Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for geneticcounseling, J INVES DER, 111(6), 1998, pp. 1210-1213
The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in
the type VII collagen gene (COL7A1). In dominant DEB, a characteristic gen
etic lesion is a glycine substitution mutation within the collagenous domai
n of the protein. In this study, we have examined the molecular basis of si
x new families in which the proband has clinical features and/or ultrastruc
tural findings consistent with DEB. The results revealed a glycine substitu
tion mutation in all six families, four of which are novel and previously u
npublished. In three families with clinically unaffected parents, de novo m
utations G2043R and G2040V were found. These results emphasize the predomin
ance of glycine substitution mutations in dominant DEB, and indicate that i
n some cases the phenotype is due to de novo dominant mutations.