Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria

J Invest Dermatol. 2007 Feb;127(2):309-11. doi: 10.1038/sj.jid.5700528. Epub 2006 Aug 17.

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Asian People / genetics*
  • Codon, Nonsense
  • Frameshift Mutation
  • Heterozygote
  • Humans
  • Mutation*
  • Mutation, Missense
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • RNA-Binding Proteins

Substances

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