[Analysis of ATP2A2 gene mutations in a pedigree and a sporadic case with Darier disease]

To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations.A missense mutation c.1484CT (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2AG was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls.Mutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.