The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

被引：21
|
作者：
Cluzeau, C. [1 ,2 ]
Hadj-Rabia, S. [1 ,2 ,3 ]
Bal, E. [1 ,2 ]
Clauss, F. [4 ,5 ]
Munnich, A. [1 ,2 ]
Bodemer, C. [1 ,2 ,3 ]
Headon, D. [6 ,7 ]
Smahi, A. [1 ,2 ]
机构：
[1] Univ Paris 05, F-75015 Paris, France
[2] Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
[3] Hop Necker Enfants Malad, Serv Dermatol, Ctr Reference Natl Malad Genet Express Cutanee, F-75015 Paris, France
[4] Hop Univ, Dept Odontol Pediat, Ctr Reference Natl Malad Genet Express Odontol, F-67091 Strasbourg, France
[5] Univ Strasbourg, Fac Dent, NSERM UMR977, F-67091 Strasbourg, France
[6] Univ Edinburgh, Roslin Inst, Edinburgh EH25 9PS, Midlothian, Scotland
[7] Univ Edinburgh, R D SVS, Edinburgh EH25 9PS, Midlothian, Scotland
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2012年 / 166卷 / 03期
基金：
英国生物技术与生命科学研究理事会;
关键词：
POSITIVE SELECTION; ECTODYSPLASIN;
D O I：
10.1111/j.1365-2133.2011.10620.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：678 / 681
页数：4
相关论文
共 50 条
  • [31] A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia
    Canueto, J.
    Zafra-Cobo, M. I.
    Ciria, S.
    Unamuno, P.
    Gonzalez-Sarmiento, R.
    ACTAS DERMO-SIFILIOGRAFICAS, 2011, 102 (09): : 722 - 725
  • [32] Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia
    Naqvi, S. K.
    Wasif, N.
    Javaid, H.
    Ahmad, W.
    ORTHODONTICS & CRANIOFACIAL RESEARCH, 2011, 14 (03) : 156 - 159
  • [33] Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia
    Feng, X.
    Weng, C.
    Wei, T.
    Sun, J.
    Huang, F.
    Yu, P.
    Qi, M.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2018, 32 (08) : E324 - E326
  • [34] EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature
    Huang, S. X.
    Liang, J. L.
    Sui, W. G.
    Lin, H.
    Xue, W.
    Chen, J. J.
    Zhang, Y.
    Gong, W. W.
    Dai, Y.
    Ou, M. L.
    GENETICS AND MOLECULAR RESEARCH, 2015, 14 (03) : 10344 - 10351
  • [35] Identification of a novel mutation in the EDA gene in a Korean patient with X-linked hypohidrotic ectodermal dysplasia
    Kim, Dong Ha
    Son, In Pyeong
    Lee, Jin Woong
    Lee, Hye In
    Kim, Ji Hyun
    Lim, In Suck
    Kim, Beom Joon
    Kim, Myeung Nam
    JOURNAL OF DERMATOLOGY, 2010, 37 : 103 - 103
  • [36] Novel nonsense mutation of the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia
    Wang, Hao
    Xie, Le-si
    JOURNAL OF DERMATOLOGY, 2014, 41 (11): : 1014 - 1016
  • [37] A novel EDA gene mutation in two Turkish brothers with X-linked hypohidrotic ectodermal dysplasia
    Subasioglu, A.
    Hazan, F.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 230 - 231
  • [38] Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia
    Liu, Yanshan
    Huang, Yingzhi
    Hua, Rui
    Zhao, Xiuli
    Yang, Wei
    Liu, Yaping
    Zhang, Xue
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 22 (08) : 487 - 491
  • [39] A Missense Mutation in the Death Domain of EDAR Abolishes the Interaction with EDARADD and Underlies Hypohidrotic Ectodermal Dysplasia
    Masui, Yukiko
    Farooq, Muhammad
    Sato, Nobuyuki
    Fujimoto, Atsushi
    Fujikawa, Hiroki
    Ito, Masaaki
    Shimomura, Yutaka
    DERMATOLOGY, 2011, 223 (01) : 74 - 79
  • [40] Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation
    Valcuende-Cavero, F.
    Martinez, F.
    Perez-Pastor, G.
    Oltra, S.
    Ferrer, I.
    Tomas-Cabedo, G.
    Moreno-Presmanes, M.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2008, 22 (12) : 1508 - 1510
12345