Abstract: Objective: To detect mutation of MVK gene in a family with porokeratosis of Mibelli（PM）. Methods: The clinical data and blood samples of family members were collected, including 7 patients and 3 normal members. DAN was extracted from blood samples. Polymerase chain reaction and direct sequencing in MVK gene were performed and the result was compared with 676 healthy controls detected before. Results: A missense mutation（c.604G>A）in MVK gene was found in 7 patients with PM and this mutation was reported in DSAP patients. No mutation was found in normal members and healthy controls. Conclusion: MVK gene mutation（c.604G>A）is associated with PM in this family and the mutation was the co-mutation site of PM and DSAP.

Key words: porokeratosis, MVK, gene, mutation