A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Clin Exp Dermatol. 2004 Sep;29(5):533-5. doi: 10.1111/j.1365-2230.2004.01548.x.

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A-->G transition at position 2879 in exon 10 of the DSRAD gene was detected.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Adult
  • China
  • Female
  • Hand
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Pigmentation Disorders / genetics*

Substances

  • Adenosine Deaminase