Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma

被引:10
|
作者
Sakabe, Jun-Ichi [1 ]
Yoshiki, Ryutaro
Sugita, Kazunari
Haruyama, Sanehito
Sawada, Yu
Kabashima, Rieko
Bito, Toshinori
Nakamura, Motonobu
Tokura, Yoshiki [2 ]
机构
[1] Univ Occupat & Environm Hlth, Dept Dermatol, Yahatanishi Ku, Kitakyushu, Fukuoka 8078555, Japan
[2] Hamamatsu Univ Sch Med, Dept Dermatol, Hamamatsu, Shizuoka 4313192, Japan
来源
JOURNAL OF DERMATOLOGY | 2012年 / 39卷 / 09期
关键词
KID SYNDROME;
D O I
10.1111/j.1346-8138.2011.01414.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:814 / 815
页数:2
相关论文
共 50 条
  • [1] Keratitis-ichthyosis-deafness syndrome is caused by dominant missense mutations in GJB2 encoding connexin-26
    Richard, G
    Rouan, F
    Willoughby, C
    Brown, N
    Amin, S
    Chung, P
    Ryynanen, M
    Jabs, E
    Bale, S
    DiGiovanna, J
    Uitto, J
    Russell, L
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 119 (01) : 263 - 263
  • [2] Mutations of connexin 26 (GJB2) gene in a Chinese keratitis-ichthyosis- deafness syndrome patient with squamous cell carcinoma
    Liu, Jingjing
    Fang, Shan
    Ding, Qiuyun
    Wang, Yanli
    Ye, Teng
    Zhu, Haigang
    Zhang, Xueqi
    Li, Bingxu
    Xu, Yunsheng
    Li, Zhiming
    JOURNAL OF DERMATOLOGY, 2016, 43 (01): : 104 - 106
  • [3] Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome
    Yotsumoto, S
    Hashiguchi, T
    Chen, X
    Ohtake, N
    Tomitaka, A
    Akamatsu, H
    Matsunaga, K
    Shiraishi, S
    Miura, H
    Adachi, J
    Kanzaki, T
    BRITISH JOURNAL OF DERMATOLOGY, 2003, 148 (04) : 649 - 653
  • [4] Keratitis-ichthyosis-deafness syndrome:: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients
    Mazereeuw-Hautier, J.
    Bitoun, E.
    Chevrant-Breton, J.
    Man, S. Y. K.
    Bodemer, C.
    Prins, C.
    Antille, C.
    Saurat, J. -H.
    Atherton, D.
    Harper, J. I.
    Kelsell, D. P.
    Hovnanian, A.
    BRITISH JOURNAL OF DERMATOLOGY, 2007, 156 (05) : 1015 - 1019
  • [5] Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
    Richard, G
    Rouan, F
    Willoughby, CE
    Brown, N
    Chung, P
    Ryynänen, M
    Jabs, EW
    Bale, SJ
    DiGiovanna, JJ
    Uitto, J
    Russell, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (05) : 1341 - 1348
  • [6] Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
    Dalamon, Viviana Karina
    Buonfiglio, Paula
    Larralde, Margarita
    Craig, Patricio
    Lotersztein, Vanesa
    Choate, Keith
    Pallares, Norma
    Diamante, Vicente
    Elgoyhen, Ana Belen
    BMC MEDICAL GENETICS, 2016, 17
  • [7] GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
    Janecke, AR
    Hennies, HC
    Günther, B
    Gansl, G
    Smolle, J
    Messmer, EM
    Utermann, G
    Rittinger, O
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 133A (02) : 128 - 131
  • [8] A novel mutation in the GJB2 (connexin 26) gene in a child with clinical and histologic features of keratitis-ichthyosis-deafness syndrome
    Koppelhus, Uffe
    Esberg, Gitte
    Tranebjaerg, Lisbeth
    Ramsing, Mette
    Sommerlund, Mette
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2010, 62 (03) : AB71 - AB71
  • [9] Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal Mosaicism
    Titeux, Matthias
    Mendonca, Vanessa
    Decha, Audrey
    Moreira, Elisabete
    Magina, Sofia
    Maia, Ana
    Lacaze-Buzy, Laetitia
    Mejia, Jose Enrique
    Torrao, Luis
    Carvalho, Filipa
    Eca-Guimaraes, Julia
    Hovnanian, Alain
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (03) : 776 - 779
  • [10] A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome
    Koppelhus, U.
    Tranebjaerg, L.
    Esberg, G.
    Ramsing, M.
    Lodahl, M.
    Rendtorff, N. D.
    Olesen, H. V.
    Sommerlund, M.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2011, 36 (02) : 142 - 148