Abstract: Objective: To detect mutations of ATP2A2 gene in three sporadic patients and one family with Darier's Disease (DD). Methods: Clinical data and peripheral blood samples were collected from the family members, sporadic patients and 100 unrelated healthy people. PCR was performed to amplify all coding exons and flanking sequence of the ATP2A2 gene. PCR products were directly sequenced to detect mutations. Literatures were reviewed on ATP2A2 gene mutations in DD. Results: A novel missense mutation c. 380 G>A (p.G127D) in exon 5 of ATP2A2 gene was detected in all three patients in the family. The missense mutation C.1676G>A (p.R559Q) in exon 13 was detected in sporadic patient S1, and a synonymous mutation c. 2001C>T (p.D667D) in exon 14 was detected in sporadic patient S2. No mutation was found in the sporadic patient S3. Conclusion: Three mutations were found and c.380 G>A (p.G127D) is a newly discovered mutation in ATP2A2 gene of DH in Chinese population, which expands the mutation spectrum of ATP2A2 gene.

Key words: Darier's disease, ATP2A2 gene, mutation