Abstract: Objective: To detect the mutant gene of pyoderma gangrenosum(PG) in the next generation target area and explore the genetic background of PG. Methods: We collected the peripheral blood of patients with pyoderma gangrenosum and extracted DNA. The target genes were sequenced by the next-generation sequencing, and the gene-based burden test was carried out by using the whole exome sequencing data of the controls in our data library. The mutations may be related to pyoderma gangrenosum were verified by Sanger sequencing. Results: A total of 36 patients with pyoderma gangrenosum were collected，and  6 damaging mutations in 5 genes of 4 patients were found, including one frame shift mutation: NLRP12: c.908delT(p.F303fs) and five missence mutations: MAP3K7: c.815C>G(p.S272C), MPO: c.1484C>T(p.T495I), MPO: c.1705C>T(p.R569W), NOD2: c.2975G>A(p.R992Q), SYK: c.389A>G(p.E130G). The heterozygous mutation of MAP3K7 and the homozygous (compound heterozygous) mutation of MPO only exist in the patients. Conclusion: The damage mutation of MAP3K7 (P=7.44E-02) and MPO(P=7.44E-02) may be related to pyoderma gangrenosum in Chinese population.

Key words: pyoderma gangrenosum, next generation sequencing, gene mutation