Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease

Int J Dermatol. 2011 Nov;50(11):1366-1370. doi: 10.1111/j.1365-4632.2011.05129.x.

Abstract

Darier's disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca(2+) -ATPase isoform 2 (SERCA2), are responsible for this skin disorder. Here we report the clinical, genetic, and molecular characterization of a large Chinese family with DD. We identified mutation c.632G>A (p.G211D) in the ATP2A2 gene in this family. Genotype-phenotype correlation in available family members provided helpful genetic counseling information for mutation carriers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asian People
  • Child
  • Child, Preschool
  • Darier Disease / genetics*
  • Darier Disease / pathology*
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*
  • Sequence Analysis, DNA

Substances

  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • ATP2A2 protein, human