Archives of Dermatological Research

, Volume 299, Issue 5, pp 273–275

A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria

Short Communication

DOI: 10.1007/s00403-007-0762-9

Cite this article as:
Li, M., Yang, LJ., Shi, YX. et al. Arch Dermatol Res (2007) 299: 273. doi:10.1007/s00403-007-0762-9

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities. Pathogenic mutations in the DSRAD gene have been identified. In this report, we identified a Chinese family with a three-generation pedigree of DSH, in which a novel heterozygous nucleotide G→A transition was found. It is at position 3,125 in exon 12 of the DSRAD gene which induces a R1042H change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH.

Keywords

Mutation analysisDSRAD geneDyschromatosis symmetrica hereditaria (DSH)

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Ming Li
    • 1
    • 2
  • Li-Jia Yang
    • 1
    • 2
  • Yi-Xin Shi
    • 3
  • Hong-Yu Huang
    • 4
  1. 1.Department of DermatologyThe Wuxi Second Affiliated Hospital of Nanjing Medical UniversityWuxiChina
  2. 2.Department of DermatologyWuxi No.2 People’s HospitalWuxiChina
  3. 3.Department of BioengineeringBeihang UniversityBeijingChina
  4. 4.Department of Central LaboratoryWuxi No.2 People’s HospitalWuxiChina