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.
Suzuki
Noriyuki
N
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Suzuki
Tamio
T
Inagaki
Katsuhiko
K
Ito
Shiro
S
Kono
Michihiro
M
Horikawa
Tatsuya
T
Fujiwara
Sakuhei
S
Ishiko
Akira
A
Matsunaga
Kayoko
K
Aoyama
Yumi
Y
Tosaki-Ichikawa
Hiroko
H
Tomita
Yasushi
Y
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
D018389:Codon, Nonsense; D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase