Pretibial epidermolysis bullosa(PEB)is an extremely rare subtype of dominant Dystrophic epidermolysis bullosa(DDEB)caused by mutation of COL7A1 gene.In this study,a novel heterozygous nucleotide G→T transition at position 6101 in exon73 of COL7A1 was detected,which resulted in a glycine to valine substitution(G2034V)in the triple-helical domain of type Ⅶ collagen.Most mutation COL7A1 gene are family specific and family differ in phenotypes.But It is the first report that one mutation caused a broad range of severity in one PEB family.And it indicates that c.6101G>T maybe influence the phenotype of PEB and contributes to the expanding database on COL7A1 mutations.