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

Noriyuki Suzuki, Tamio Suzuki, Katsuhiko Inagaki, Shiro Ito, Michihiro Kono, Tatsuya Horikawa, Sakuhei Fujiwara, Akira Ishiko, Kayoko Matsunaga, Yumi Aoyama, Hiroko Tosaki-Ichikawa, Yasushi Tomita

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32 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)309-311
Number of pages3
JournalJournal of Investigative Dermatology
Volume127
Issue number2
DOIs
Publication statusPublished - 02-2007

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

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