Abstract: Objective To study ATP2A2 gene mutation in a family with Darier's disease. Methods A patient was diagnosed as Darier's disease by pathology and clinical features. PCR and DNA sequencing were used to detect the gene mutation of the family. Results A A1541G transition was found in ATP2A2 gene of the patient. This mutation resulted in K514R substitution in ATP binding domain. No mutation was found in other healthy family members and normal controls. Conclusions K514R,the novel mutation, may be an underlying cause of Darier's disease in this family, not a common polymorphism.

Key words: Keratosis follicularis, DNA mutational analysis, ATP2A2