De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

被引：22
|
作者：
Alvarez, A
del Castillo, I
Pera, A
Villamar, M
Moreno-Pelayo, MA
Moreno, F
Moreno, R
Tapia, MC
机构：
[1] Hosp Ramon & Cajal, Unidad Genet Mol, Madrid 28034, Spain
[2] Hosp Ramon & Cajal, Dermatol Serv, E-28034 Madrid, Spain
[3] Hosp Clin San Carlos Pabellon, Serv ORL, E-28034 Madrid, Spain
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 117A卷 / 01期
关键词：
D O I：
10.1002/ajmg.a.10851
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：89 / 91
页数：3
相关论文
共 50 条
  • [1] A Novel Dominant and a De Novo Mutation in the GJB2 Gene (Connexin-26) Cause Keratitis-Ichthyosis-Deafness Syndrome: Implication for Cochlear Implantation
    Arndt, Susan
    Aschendorff, Antje
    Schild, Christian
    Beck, Rainer
    Maier, Wolfgang
    Laszig, Roland
    Birkenhaeger, Ralf
    OTOLOGY & NEUROTOLOGY, 2010, 31 (02) : 210 - 215
  • [2] 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
  • [3] 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
  • [4] 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
  • [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] 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
  • [7] Mosaicism for a lethal GJB2 mutation causes Keratitis-Ichthyosis-Deafness (KID) syndrome
    Sanchez Diaz, Aurora
    Aguilera, Paula
    Gracia, Marta
    Vidales, Concha
    Badenas, Celia
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 346 - 346
  • [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] A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
    Jonard, Laurence
    Feldmann, Delphine
    Parsy, Christophe
    Freitag, Sylvie
    Sinico, Martine
    Koval, Celeste
    Grati, Mhamed
    Couderc, Remy
    Denoyelle, Francoise
    Bodemer, Christine
    Marlin, Sandrine
    Hadj-Rabia, Smail
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2008, 51 (01) : 35 - 43
  • [10] Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma
    Sakabe, Jun-Ichi
    Yoshiki, Ryutaro
    Sugita, Kazunari
    Haruyama, Sanehito
    Sawada, Yu
    Kabashima, Rieko
    Bito, Toshinori
    Nakamura, Motonobu
    Tokura, Yoshiki
    JOURNAL OF DERMATOLOGY, 2012, 39 (09): : 814 - 815
12345