Abstract: Objective: To detect and analyze the pathogenic genes and mutation sites in two patients with inherited epidermolysis bullosa. Methods: The data of two patients were investigated and DNA was extracted in peripheral blood samples from patients and their parents. The whole-exome sequencing was performed to screen pathogenic genes, and the sequencing results were analyzed by bioinformatics to obtain pathogenic candidate mutations. The mutations also verified by Sanger sequenced in patients and their relatives. Results: The parents of the first patient had normal phenotypes, and the father of the second patient had the manifestations of inherited epidermolysis bullosa. A missense mutation of c.6082G>A (p.G2028R) in exon 73 of COL7A1 gene was detected in the first sporadic patient, which was not found by her parents. Two pathogenic missense mutations, C.6235G>A (p.G2079R) mutation in the COL7A1 gene and C.499G>A (p.E167K) mutation in the KRT5 gene were found in the second patient and his father. Conclusion: The COL7A1 gene mutation in sporadic patient is a de novo mutation. One patient in a pedigree carried two missense mutations of COL7A1 gene and KRT5 gene is the first report at home and abroad.

Key words: inherited epidermolysis bullosa, dominant dystrophic epidermolysis bullosa, COL7A1 gene, KRT5 gene