Abstract: Objective:  Dystrophic epidermolysis bullosa is an autosomal dominant or recessive disorder caused by mutations in the gene encoding type Ⅶ collagen (COL7A1 gene). To detect the mutation of COL7A1 in a DEB family. Methods: We performed full exon sequencing on DNA of the proband, and verified the COL7A1 mutation site of her sister by Sanger sequencing. Results: The proband and her sister had the same COL7A1 genotype, and the point mutation on exon 86 was c.6761G>A (p.Gly2254Glu). Conclusion: A new mutation locus of DEB family COL7A1 gene is found, which has not been reported in China at present.

Key words: dominant dystrophic epidermolysis bullosa, prurigo type, COL7A1 gene, missense mutation