Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

被引:15
|
作者
Zamiri, M. [1 ,2 ]
Smith, F. J. D. [3 ]
Campbell, L. E. [3 ]
Tetley, L. [4 ]
Eady, R. A. J. [5 ]
Hodgins, M. B. [2 ]
McLean, W. H. I. [3 ]
Munro, C. S. [1 ]
机构
[1] Alan Lyell Ctr Dermatol, Glasgow, Lanark, Scotland
[2] Univ Glasgow, Dermatol Sect, Div Canc Sci & Mol Pathol, Glasgow G12 8QQ, Lanark, Scotland
[3] Univ Dundee, Epithelial Genet Grp, Human Genet Unit, Dundee, Scotland
[4] Univ Glasgow, Sect Infect & Immunol, Glasgow G12 8QQ, Lanark, Scotland
[5] St Thomas Hosp, St Johns Inst Dermatol, London, England
基金
英国医学研究理事会;
关键词
autosomal dominant; desmoglein; 1; striate palmoplantar keratoderma; FRAMESHIFT MUTATION; DESMOGLEIN-1; GENE; SKIN; DESMOPLAKIN; HAPLOINSUFFICIENCY; DESMOSOMES;
D O I
10.1111/j.1365-2133.2009.09316.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:692 / 694
页数:4
相关论文
共 50 条
  • [1] Novel mutation in desmoglein 1 (DSG1) causing autosomal dominant striate palmoplantar keratoderma
    Zamiri, M.
    Smith, F. J. D.
    Campbell, L. E.
    Tetley, L.
    McLean, W. H. I.
    Hodgins, M. B.
    Munro, C. S.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (04) : 908 - 909
  • [2] Novel mutations in DSG1 causing striate palmoplantar keratoderma
    Hershkovitz, D.
    Lugassy, J.
    Indelman, M.
    Bergman, R.
    Sprecher, E.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2009, 34 (02) : 224 - 228
  • [3] Striate palmoplantar keratoderma resulting from a missense mutation in DSG1
    Vodo, D.
    O'Toole, E. A.
    Malchin, N.
    Lahav, A.
    Adir, N.
    Sarig, O.
    Green, K. J.
    Smith, F. J. D.
    Sprecher, E.
    BRITISH JOURNAL OF DERMATOLOGY, 2018, 179 (03) : 755 - 757
  • [4] Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family
    Zamer, Batoul Abi
    Mahfood, Mona
    Saleh, Batoul
    Al Mutery, Abdullah Fahd
    Tlili, Abdelaziz
    ANNALS OF HUMAN GENETICS, 2019, 83 (06) : 472 - 476
  • [5] Striate palmoplantar keratoderma resulting from a missense mutation in DSG1
    Vodo, D.
    O'Toole, E.
    Malchin, N.
    Lahav, A.
    Adir, N.
    Sarig, O.
    Green, K.
    Sprecher, E.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2018, 138 (05) : S131 - S131
  • [6] Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation
    He, Li
    Zhu, Guannan
    GENES & GENOMICS, 2025, 47 (01) : 1 - 10
  • [7] Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations
    Nomura, Toshifumi
    Mizuno, Osamu
    Miyauchi, Toshinari
    Suzuki, Shotaro
    Shinkuma, Satoru
    Hata, Hiroo
    Fujita, Yasuyuki
    Akiyama, Masashi
    Shimizu, Hiroshi
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2015, 80 (03) : 223 - 225
  • [8] Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1
    Keren, H
    Bergman, R
    Mizrachi, M
    Kashi, Y
    Sprecher, E
    ARCHIVES OF DERMATOLOGY, 2005, 141 (05) : 625 - 628
  • [9] Loss-of-function mutation in DSG1 underlies focal palmoplantar keratoderma
    Nomura, T.
    Takeda, M.
    Peh, J. T.
    Miyauchi, T.
    Suzuki, S.
    Fujita, Y.
    Uesugi, T.
    Shimizu, H.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2019, 33 (03) : E137 - E138
  • [10] Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism
    Blecic, A. -S.
    Pernin, J.
    Jonca, N.
    Mazereeuw-Hautier, J.
    Jullie, M. -L.
    Cario-Andre, M.
    Leaute-Labreze, C.
    Boralevi, F.
    Morice-Picard, F.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2021, 35 (06) : E385 - E387