Identification of two novel Darier disease‑associated mutations in the ATP2A2 gene.

ABSTRACT: Darier disease (DD) is an autosomal dominant inherited skin disorder, characterized by abnormal keratinization, loss of adhesion between epidermal cells, termed acantholysis, and the development of warty papules and plaques on the central trunk, forehead, scalp and flexures. These symptoms are often exacerbated by heat, sweating, sunburn and stress. Mutations in the ATP2A2 gene, encoding SERCA2, a calcium pump of the sarco/endoplasmic reticulum, are responsible for the disease. The aim of the present study was to investigate two pedigrees of DD and to examine the genetic mutations. DNA was extracted from peripheral blood, which was obtained from four patients with DD, 10 healthy individuals from the two families and 100 ethnicity-matched control individuals, on which subsequent polymerase

SUBMITTER: Zheng L 

PROVIDER: S-EPMC4464092 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature