title: Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria.
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.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Suzuki
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Inagaki
authors.forename: Shiro
authors.initials: S
authors.lastname: Ito
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kono
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Horikawa
authors.forename: Sakuhei
authors.initials: S
authors.lastname: Fujiwara
authors.forename: Akira
authors.initials: A
authors.lastname: Ishiko
authors.forename: Kayoko
authors.initials: K
authors.lastname: Matsunaga
authors.forename: Yumi
authors.initials: Y
authors.lastname: Aoyama
authors.forename: Hiroko
authors.initials: H
authors.lastname: Tosaki-Ichikawa
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Tomita
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D018389:Codon, Nonsense; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D016601:RNA-Binding Proteins
chemical_list: D018389:Codon, Nonsense; D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase