Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis

被引:1
|
作者
Pietrusinski, M. [1 ]
Stanczyk-Przyluska, A. [2 ]
Chlebna-Sokol, D. [3 ]
Borkowska, E. [1 ]
Kaluzewski, B. [1 ]
Borowiec, M. [1 ,4 ]
机构
[1] Med Univ Lodz, Dept Clin Genet, PL-92213 Lodz, Poland
[2] Med Univ Lodz, Dept Pediat Prevent Cardiol & Immunol, PL-92213 Lodz, Poland
[3] Med Univ Lodz, Dept Pediat Propedeut & Bone Metab Dis, PL-92213 Lodz, Poland
[4] Med Univ Lodz, Dept Paediat Oncol Haematol & Diabetol, PL-92213 Lodz, Poland
关键词
RECESSIVE CONGENITAL ICHTHYOSIS; POPULATION;
D O I
10.1111/ced.12456
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:921 / 923
页数:3
相关论文
共 50 条
  • [1] Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis
    Tok, J
    Garzon, MC
    Cserhalmi-Friedman, P
    Lam, HM
    Spitz, JL
    Christiano, AM
    EXPERIMENTAL DERMATOLOGY, 1999, 8 (02) : 128 - 133
  • [2] Novel mutation in the transglutaminase 1 gene (TGM1) in a boy with lamellar ichthyosis
    Clayton, T. H.
    Clark, S. M.
    BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (03) : 650 - 650
  • [3] Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis
    Yang, JM
    Ahn, KS
    Cho, MO
    Yoneda, K
    Lee, CH
    Lee, JH
    Lee, ES
    Candi, E
    Melino, G
    Ahvazi, B
    Steinert, PM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 117 (02) : 214 - 218
  • [4] Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis
    Yotsumoto, S
    Akiyama, M
    Yoneda, K
    Fukushige, T
    Kobayashi, K
    Saheki, T
    Kanzaki, T
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2000, 24 (02) : 119 - 125
  • [5] Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene
    Rodriguez-Pazos, Laura
    Ginarte, Manuel
    Vega-Gliemmo, Ana
    Toribio, Jaime
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2009, 48 (11) : 1195 - 1197
  • [6] Common mutation in transglutaminase 1 in lamellar ichthyosis.
    Shevchenko, YO
    Compton, JG
    Toro, JR
    DiGiovanna, JJ
    Bale, SJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A491 - A491
  • [7] A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
    Vaigundan, D.
    Kalmankar, Neha V.
    Krishnappa, J.
    Gowda, N. Yellappa
    Kutty, A. V. M.
    Krishnaswamy, Patnam R.
    BIOMED RESEARCH INTERNATIONAL, 2014, 2014
  • [8] Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype
    Bai, Juan
    Ding, Ying-guo
    Wu, Yin-hua
    Qiao, Jian-jun
    Fang, Hong
    INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2015, 81 (03): : 292 - +
  • [9] Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis
    Pigg, M
    Gedde-Dahl, T
    Cox, DW
    Haugen, G
    Dahl, N
    PRENATAL DIAGNOSIS, 2000, 20 (02) : 132 - 137
  • [10] Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
    Suga, Yasushi
    Tsuda, Tatsuya
    Nagai, Makoto
    Sakaguchi, Yoshiko
    Jitsukawa, Orie
    Yamamoto, Masaaki
    Hitomi, Kiyotaka
    Yamanishi, Kiyofumi
    JOURNAL OF DERMATOLOGY, 2015, 42 (06): : 642 - 645