Mutation analysis of the ATP2A2 gene in a Kazakh family with Darier′s disease

Abstract

Objective To analyze mutations in the ATP2A2 gene in a Kazakh family with Darier′s disease. Methods Clinical data were collected from 49 members from a family with Darier′s disease, and peripheral blood samples were obtained from 44 family members and 100 unrelated healthy people. Genomic DNA was extracted from these blood samples. PCR and DNA sequencing were performed to detect mutations in the ATP2A2 gene. Results Darier′s disease was inherited in an autosomal dominant manner in this family. A G→A heterozygous mutation (1288-1G→A) was identified at position 1288-1 at the splice site in exon 12 of the ATP2A2 gene in 11 patients in this family, but not in 33 healthy members or 100 healthy controls. Conclusion Darier′s disease in this family may be caused by the heterozygous mutation (1288-1G→A) at the splice site in exon 12 of the ATP2A2 gene. Key words: Darier disease; DNA mutational analysis; Pedigree; Gene, ATP2A2; Kazakh