Mosaicism for a lethal GJB2 mutation causes Keratitis-Ichthyosis-Deafness (KID) syndrome

被引：0
|
作者：
Sanchez Diaz, Aurora [1 ,2 ]
Aguilera, Paula [2 ,3 ]
Gracia, Marta [1 ]
Vidales, Concha [4 ]
Badenas, Celia [1 ,2 ]
机构：
[1] Serv Bioquim & Genet Mol Hosp Clin, Barcelona, Spain
[2] CIBER Enfermedades Raras CIBERER, Barcelona, Spain
[3] Serv Dermatol Hosp Clin, Barcelona, Spain
[4] DNA Data Biomed Co, San Sebastian, Spain
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P11.070.D
引用
收藏
页码：346 / 346
页数：1
相关论文
共 50 条
  • [1] 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
  • [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] 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
  • [4] Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation
    Zhang, X. -B.
    Wei, S. -C.
    Li, C. -X.
    Xu, X.
    He, Y. -Q.
    Luo, Q.
    Li, J.
    Wang, Y. -F.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2009, 34 (03) : 309 - 313
  • [5] Lethal Form of Keratitis-Ichthyosis-Deafness Syndrome Caused by the GJB2 Mutation p.Ser17Phe
    Mazereeuw-Hautier, Juliette
    Chiaverini, Christine
    Jonca, Nathalie
    Bieth, Eric
    Dreyfus, Isabelle
    Maza, Aude
    Cardot-Leccia, Nathalie
    Perrin, Christophe
    Lacour, Jean-Philippe
    ACTA DERMATO-VENEREOLOGICA, 2014, 94 (05) : 591 - 592
  • [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] KERATITIS-ICHTHYOSIS-DEAFNESS, KID SYNDROME
    JURECKA, W
    HAUTARZT, 1984, 35 (06): : 322 - 323
  • [8] Keratitis-ichthyosis-deafness (KID) syndrome
    Mazereeuw-Hautier, J.
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2008, 135 (01): : 80 - 82
  • [9] De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome
    Alvarez, A
    del Castillo, I
    Pera, A
    Villamar, M
    Moreno-Pelayo, MA
    Moreno, F
    Moreno, R
    Tapia, MC
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 117A (01) : 89 - 91
  • [10] 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
12345