A novel complex insertion-deletion mutation in ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria

被引:6
作者
Li, M. [1 ,2 ,3 ]
Jin, C. [2 ,3 ]
Yang, L. [2 ,3 ]
Lai, M. [2 ,3 ]
Yao, Z. [1 ]
机构
[1] Shanghai Jiao Tong Univ, Dept Dermatol, Sch Med, Xinhua Hosp, Shanghai 200030, Peoples R China
[2] Wuxi 2 Peoples Hosp, Dept Dermatol, Wuxi, Peoples R China
[3] Nanjing Med Univ, Dept Dermatol, Affiliated Wuxi Hosp 2, Wuxi, Peoples R China
关键词
RETICULATE ACROPIGMENTATION; DSRAD; DOHI;
D O I
10.1111/j.1468-3083.2010.03773.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:744 / 746
页数:3
相关论文
共 8 条
[1]   A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma [J].
He, XH ;
Zhang, XN ;
Mao, W ;
Chen, HP ;
Xu, LR ;
Chen, H ;
He, XL ;
Le, YP .
BRITISH JOURNAL OF DERMATOLOGY, 2004, 150 (04) :647-651
[2]   A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria [J].
Li, M ;
Jiang, YX ;
Liu, JB ;
Yang, S ;
He, PP ;
Gao, M ;
Wei, SC ;
Yan, KL ;
Huang, W ;
Zhang, XJ .
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2004, 29 (05) :533-535
[3]   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
[4]   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
[5]   Reticulate acropigmentation of Dohi [J].
Ostlere, LS ;
Ratnavel, RC ;
Lawlor, F ;
Black, MM ;
Griffiths, WAD .
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 1995, 20 (06) :477-479
[6]  
Oyama M, 1999, BRIT J DERMATOL, V140, P491
[7]   Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria [J].
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 .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (02) :309-311
[8]   Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21 [J].
Zhang, XJ ;
Gao, M ;
Li, M ;
Li, M ;
Li, CR ;
Cui, Y ;
He, PP ;
Xu, SJ ;
Xiong, XY ;
Wang, ZX ;
Yuan, WT ;
Yang, S ;
Huang, W .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 120 (05) :776-780