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
  • [21] A novel FBN1 mutation causes autosomal dominant Marfan syndrome
    Xiao, Ying
    Liu, Xiaoqi
    Guo, Xiaoxin
    Liu, Liping
    Jiang, Linxin
    Wang, Qi
    Gong, Bo
    MOLECULAR MEDICINE REPORTS, 2017, 16 (05) : 7321 - 7328
  • [22] Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation
    Lee, Ivan J.
    Abbey, Cassie
    Leys, Monique
    OPHTHALMIC SURGERY LASERS & IMAGING RETINA, 2022, 53 (08) : 422 - 428
  • [23] The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family
    Yang, Qinbo
    Huang, Changzheng
    Yang, Xiaoying
    Feng, Yinfu
    Wang, Qing
    Liu, Mugen
    JOURNAL OF GENETICS AND GENOMICS, 2008, 35 (02) : 73 - 76
  • [25] A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia
    Wong, Sing-Wai
    Liu, Hao-Chen
    Han, Dong
    Chang, Huai-Guang
    Zhao, Hong-Shan
    Wang, Yi-Xiang
    Feng, Hai-Lan
    MUTAGENESIS, 2014, 29 (05) : 319 - 323
  • [26] Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract
    Weisschuh, Nicole
    Aisenbrey, Sabine
    Wissinger, Bernd
    Riess, Angelika
    MOLECULAR VISION, 2012, 18 (20): : 174 - 180
  • [27] A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
    Berry, Vanita
    Pontikos, Nikolas
    Dudakova, Lubica
    Moore, Anthony T.
    Quinlan, Roy
    Liskova, Petra
    Michaelides, Michel
    OPHTHALMIC GENETICS, 2020, 41 (02) : 131 - 134
  • [28] R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma
    Jiang, Shu-juan
    Di, Zheng-hong
    Huang, Dan
    Zhang, Jiu-bin
    Zhang, Yuan-yuan
    Li, Shu-qin
    He, Rong
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2014, 78 (09) : 1461 - 1466
  • [29] A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree
    Gu, Zhensheng
    Ji, Baohu
    Wan, Chunling
    He, Guang
    Zhang, Juan
    Zhang, Ming
    Feng, Guoyin
    He, Lin
    Gao, Linghan
    MOLECULAR VISION, 2010, 16 (19-20): : 154 - 160
  • [30] A Novel Familial Autosomal Dominant Mutation in ARID1B Causing Neurodevelopmental Delays, Short Stature, and Dysmorphic Features
    Smith, Joshua A.
    Holden, Kenton R.
    Friez, Michael J.
    Jones, Julie R.
    Lyons, Michael J.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (12) : 3313 - 3318