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

被引:32
作者
Suzuki, Noriyuki
Suzuki, Tamio
Inagaki, Katsuhiko
Ito, Shiro
Kono, Michihiro
Horikawa, Tatsuya
Fujiwara, Sakuhei
Ishiko, Akira
Matsunaga, Kayoko
Aoyama, Yumi
Tosaki-Ichikawa, Hiroko
Tomita, Yasushi
机构
[1] Nagoya Univ, Grad Sch Med, Dept Dermatol, Showa Ku, Nagoya, Aichi 4668550, Japan
[2] Kobe Univ, Grad Sch Med, Dept Dermatol, Kobe, Hyogo, Japan
[3] Oita Univ, Fac Med, Dept Dermatol, Oita, Japan
[4] Keio Univ, Sch Med, Dept Dermatol, Tokyo, Japan
[5] Fujita Hlth Univ, Dept Dermatol, Toyoake, Aichi 47011, Japan
[6] Gifu Univ, Sch Med, Dept Dermatol, Gifu 500, Japan
关键词
D O I
10.1038/sj.jid.5700528
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
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.1913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.
引用
收藏
页码:309 / 311
页数:3
相关论文
共 14 条
[1]   AN UNWINDING ACTIVITY THAT COVALENTLY MODIFIES ITS DOUBLE-STRANDED-RNA SUBSTRATE [J].
BASS, BL ;
WEINTRAUB, H .
CELL, 1988, 55 (06) :1089-1098
[2]   A novel deletion mutation of the DSRAD gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria [J].
Chao, SC ;
Lee, JYY ;
Sheu, HM ;
Yang, MH .
BRITISH JOURNAL OF DERMATOLOGY, 2005, 153 (05) :1064-1066
[3]   Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria [J].
Cui, Y ;
Wang, J ;
Yang, S ;
Gao, M ;
Chen, JJ ;
Yan, KL ;
Xiao, FL ;
Huang, W ;
Zhang, XJ .
ARCHIVES OF DERMATOLOGICAL RESEARCH, 2005, 296 (11) :543-545
[4]   Human RNA-specific adenosine deaminase (ADAR1) gene specifies transcripts that initiate from a constitutively active alternative promoter [J].
Kawakubo, K ;
Samuel, CE .
GENE, 2000, 258 (1-2) :165-172
[5]   A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria [J].
Li, CR ;
Li, M ;
Ma, HJ ;
Luo, D ;
Yang, LJ ;
Wang, DG ;
Zhu, XH ;
Yue, XZ ;
Chen, WQ ;
Zhu, WY .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2005, 37 (02) :95-99
[6]   Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria [J].
Li, M ;
Li, CR ;
Hua, HK ;
Zhu, WY ;
Lu, Y ;
Yang, LJ .
ARCHIVES OF DERMATOLOGICAL RESEARCH, 2005, 297 (05) :196-200
[7]   Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria [J].
Liu, Q ;
Jiang, L ;
Liu, WL ;
Kang, XJ ;
Ao, Y ;
Sun, M ;
Luo, Y ;
Song, Y ;
Lo, WHY ;
Zhang, X .
BRITISH JOURNAL OF DERMATOLOGY, 2006, 154 (04) :636-642
[8]   Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria [J].
Miyamura, Y ;
Suzuki, T ;
Kono, M ;
Inagaki, K ;
Ito, S ;
Suzuki, N ;
Tomita, Y .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (03) :693-699
[9]  
Oyama M, 1999, BRIT J DERMATOL, V140, P491
[10]   Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis [J].
Suzuki, N ;
Suzuki, T ;
Inagaki, K ;
Ito, S ;
Kono, M ;
Fukai, K ;
Takama, H ;
Sato, K ;
Ishikawa, O ;
Abe, M ;
Shimizu, H ;
Kawai, M ;
Horikawa, T ;
Yoshida, K ;
Matsumoto, K ;
Terui, T ;
Tsujioka, K ;
Tomita, Y .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (06) :1186-1192