Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria

J Invest Dermatol. 2004 Apr;122(4):896-9. doi: 10.1111/j.0022-202X.2004.22429.x.

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder. It is also called "reticulate acropigmentation of Dohi" or "symmetric dyschromatosis of the extremities". The DSH locus has recently been mapped to chromosome 1q21 and pathogenic mutations were identified in the DSRAD gene encoding double-stranded RNA-specific adenosine deaminase in Japanese patients with DSH. We report here two novel point mutations, Q513X(1537C>T) and R916W(2746C>T) in the DSRAD gene identified in two Chinese families, respectively. These data suggest that mutations in DSRAD were also associated with DSH in Chinese. This is the first report on DSRAD as the causative gene of DSH in the Chinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Arginine / genetics
  • Asian People / genetics*
  • Base Sequence
  • Cytosine
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • RNA-Binding Proteins
  • Thymine
  • Tryptophan / genetics

Substances

  • RNA-Binding Proteins
  • Tryptophan
  • Cytosine
  • Arginine
  • ADARB1 protein, human
  • Adenosine Deaminase
  • Thymine