Ten Novel Mutations of the ADAR1 Gene in Japanese Patients with Dyschromatosis Symmetrica Hereditaria
Copyright policy )Ten Novel Mutations of the ADAR1 Gene in Japanese Patients with Dyschromatosis Symmetrica Hereditaria
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.
- Fujita Health University Japan
- Nagoya University Japan
- Kobe University Japan
- Oita University Japan
- Keio University Japan
Heterozygote, Adenosine Deaminase, Mutation, Missense, RNA-Binding Proteins, Cell Biology, Dermatology, Biochemistry, Asian People, Codon, Nonsense, Mutation, Humans, Frameshift Mutation, Molecular Biology, Pigmentation Disorders
Heterozygote, Adenosine Deaminase, Mutation, Missense, RNA-Binding Proteins, Cell Biology, Dermatology, Biochemistry, Asian People, Codon, Nonsense, Mutation, Humans, Frameshift Mutation, Molecular Biology, Pigmentation Disorders
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