Archives of Dermatological Research

, Volume 298, Issue 2, pp 58–63

Five mutations of ATP2A2 gene in Chinese patients with Darier’s disease and a literature review of 86 cases reported in China

  • Yun-Qing Ren
  • Min Gao
  • Yan-Hua Liang
  • Yan-Xia Hou
  • Pei-Guang Wang
  • Liang-Dan Sun
  • Sheng-Xin Xu
  • Wei Li
  • Wen-Hui Du
  • Fu-Sheng Zhou
  • Yu-Jun Shen
  • Sen Yang
  • Xue-Jun Zhang
Original Paper

DOI: 10.1007/s00403-006-0658-0

Cite this article as:
Ren, YQ., Gao, M., Liang, YH. et al. Arch Dermatol Res (2006) 298: 58. doi:10.1007/s00403-006-0658-0

Abstract

Darier’s disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported three familial and two sporadic Chinese DD patients totally with four missense mutations (N767D, M494I, M494L, C318F) and one splice-site mutation (1288–6A→G) in ATP2A2 gene, and presented a literature review of DD cases reported in China since 1989. Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type. Likewise, the literature review indicates that DD is not uncommon in China and presents more information about genotype–phenotype correlations.

Keywords

Darier’s disease Mutation analysis ATP2A2 gene China 

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Yun-Qing Ren
    • 1
    • 2
  • Min Gao
    • 1
    • 2
  • Yan-Hua Liang
    • 1
    • 2
  • Yan-Xia Hou
    • 1
    • 2
  • Pei-Guang Wang
    • 1
    • 2
  • Liang-Dan Sun
    • 1
    • 2
  • Sheng-Xin Xu
    • 1
    • 2
  • Wei Li
    • 1
    • 2
  • Wen-Hui Du
    • 1
    • 2
  • Fu-Sheng Zhou
    • 1
    • 2
  • Yu-Jun Shen
    • 1
    • 2
  • Sen Yang
    • 1
    • 2
  • Xue-Jun Zhang
    • 1
    • 2
  1. 1.Institute of Dermatology and Department of DermatologyNo: 1 Hospital, Anhui Medical UniversityHefeiChina
  2. 2.Key Laboratory of Genome Research at AnhuiHefeiChina

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