A previously unreported frameshift ATP2C1 mutation in a generalized Hailey-Hailey disease

被引：5
|
作者：
Leducq, S. [1 ,2 ]
Duchatelet, S. [3 ]
Zaragoza, J. [4 ]
Ventejou, S. [1 ,2 ]
de Muret, A. [5 ]
Eymieux, S. [5 ,6 ]
Blanchard, E. [5 ,6 ]
Machet, L. [1 ,2 ]
Hovnanian, A. [3 ]
Kervarrec, T. [5 ]
机构：
[1] CHRU Tours, Dept Dermatol, Tours, France
[2] CHRU Tours, Reference Ctr Rare Dis & Vasc Malformat MAGEC, Tours, France
[3] Univ Paris 05, Sorbonne Paris Cite, Imagine Inst, UMR 1163,INSERM, Paris, France
[4] Univ Orleans, Dept Dermatol, Orleans, France
[5] CHRU Tours, Dept Pathol, Tours, France
[6] CHRU Tours, IBiSA Electron Microscopy Platform, Tours, France
来源：
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2020年 / 34卷 / 03期
关键词：
D O I：
10.1111/jdv.16038
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：E118 / E120
页数：3
相关论文
共 50 条
  • [31] Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease
    J. Sawicka
    A. Kutkowska-Kaźmierczak
    K. Woźniak
    A. Tysarowski
    K. Osipowicz
    J. Poznański
    A. M. Rygiel
    N. Braun-Walicka
    K. Niepokój
    J. Bal
    C. Kowalewski
    K. Wertheim-Tysarowska
    Journal of Applied Genetics, 2020, 61 : 187 - 193
  • [32] Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride
    Kono, M.
    Niizawa, M.
    Takeichi, T.
    Muro, Y.
    Akiyama, M.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2018, 32 (01) : E19 - E20
  • [33] Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease
    Jia, Wei-Xue
    Zhang, Wan-Lu
    Zhao, Si-Jia
    Li, Wen-Rui
    Wu, Ying-Da
    Ma, Hui-Jun
    Li, Cheng-Rang
    POSTEPY DERMATOLOGII I ALERGOLOGII, 2019, 36 (06): : 767 - 771
  • [34] Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease
    Zhang, H. Z.
    Tian, H. Q.
    Du, D. H.
    Wang, G. J.
    Yan, X. X.
    Liu, H.
    Zhou, G. Z.
    Fu, X. A.
    Yu, Y. X.
    Yu, G. Q.
    Liu, H. X.
    Zhang, F. R.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2012, 37 (02) : 190 - 193
  • [35] Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
    Hu, ZL
    Bonifas, JM
    Beech, J
    Bench, G
    Shigihara, T
    Ogawa, H
    Ikeda, S
    Mauro, T
    Epstein, EH
    NATURE GENETICS, 2000, 24 (01) : 61 - 65
  • [36] Novel missense mutation (A414P) in ATP2C1 in a case of familial Hailey-Hailey disease
    Kaga-Kamijo, Maya
    Ikeda, Shigaku
    JOURNAL OF DERMATOLOGY, 2020, 47 (08): : E289 - E291
  • [37] Hailey-Hailey disease patient with a novel missense mutation in ATP2C1 successfully treated with minocycline hydrochloride
    Shigehara, Yohya
    Shinkuma, Satoru
    Fujimoto, Atsushi
    Saijo, Shinobu
    Abe, Riichiro
    JOURNAL OF DERMATOLOGY, 2018, 45 (11): : E306 - E308
  • [38] A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease
    Xiao, Heng
    Huang, Xiangjun
    Xu, Hongbo
    Chen, Xiang
    Xiong, Wei
    Yang, Zhijian
    Deng, Xiong
    He, Zhenghao
    Deng, Hao
    JOURNAL OF CELLULAR BIOCHEMISTRY, 2019, 120 (03) : 3630 - 3636
  • [39] Novel deep-intronic variant in ATP2C1 as the cause of Hailey-Hailey disease
    Blechingberg, Jenny
    Terkelsen, Thorkild
    Jensen, Uffe B.
    Sommerlund, Mette
    Vinter, Hanne
    Graversen, Lise
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 983 - 983
  • [40] Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease
    Zhu, Ya-Gang
    Yang, Sen
    Gao, Min
    Chen, Jian-Jun
    Li, Wei
    Wang, Pei-Gang
    Zhou, Hai-Lin
    Zhao, Xiao-Yan
    Ren, Yun-Qing
    Xiao, Feng-Li
    Du, Wen-Hui
    Zhang, Xue-Jun
    Zhou, Fu-Sheng
    Shen, Yu-Jun
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2006, 42 (02) : 125 - 127
12345