Abstract: 　Objective　To detect genetic causes of dystrophic epidermolysis bullosa (DEB). Methods　Next-generation sequencing was used to detect a neonate with dystrophic epidermolysis bullosa. Sanger sequencing was used to confirm the results and detect his parents and grandmother from the family. Results　The neonate was found to have heterozygous mutation c.6781C>T of exon 86 in COL7A1 gene．This mutation results in R2261X nonsense mutation in type Ⅶ collagen. His mother and grandmother have the same mutation. Conclusion Next-generation sequencing technology is a useful tool for the detection of mutations of COL7A1 gene, which is valuable for clinical application.