Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria

Am J Hum Genet. 2003 Sep;73(3):693-9. doi: 10.1086/378209. Epub 2003 Aug 11.


Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") 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. To determine the gene responsible for this disease, we performed a genomewide search in three families with DSH and mapped the DSH locus to chromosome 1q21.3. The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Amino Acid Sequence
  • Animals
  • Female
  • Foot
  • Hand
  • Haplotypes
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Pigmentation Disorders / enzymology*
  • Pigmentation Disorders / genetics
  • RNA-Binding Proteins


  • RNA-Binding Proteins
  • ADARB1 protein, human
  • Adenosine Deaminase

Associated data

  • GENBANK/BU437798
  • GENBANK/CA359632
  • GENBANK/CB449783
  • GENBANK/CB553335
  • GENBANK/T16913
  • GENBANK/T30340