Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex

被引:1
|
作者
Oldak, Monika [1 ]
Przybylska, Dorota [1 ]
Kosinska, Joanna [2 ]
Federowicz, Aneta [1 ]
Wozniak, Katarzyna [3 ]
Ploski, Rafal [2 ]
Kowalewski, Cezary [3 ]
机构
[1] Med Univ Warsaw, Dept Histol & Embryol, Ctr Biostruct Res, PL-02004 Warsaw, Poland
[2] Med Univ Warsaw, Dept Med Genet, PL-02004 Warsaw, Poland
[3] Med Univ Warsaw, Dept Dermatol, PL-02004 Warsaw, Poland
关键词
KERATIN-5; MUTATION; CLASSIFICATION; DIAGNOSIS;
D O I
10.1684/ejd.2013.2013
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:404 / 406
页数:4
相关论文
共 21 条
  • [1] Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5
    Chong, Shuk Ching
    Hon, Kam Lun
    Scaglia, Fernando
    Chow, Chung Mo
    Fu, Yu Ming
    WoChiu, Tor
    Leung, Alexander K. C.
    CASE REPORTS IN PEDIATRICS, 2020, 2020
  • [2] Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex
    Garcia, M.
    Santiago, J. L.
    Terron, A.
    Hernandez-Martin, A.
    Vicente, A.
    Fortuny, C.
    De Lucas, R.
    Lopez, J. C.
    Cuadrado-Corrales, N.
    Holguin, A.
    Illera, N.
    Duarte, B.
    Sanchez-Jimeno, C.
    Llames, S.
    Garcia, E.
    Ayuso, C.
    Martinez-Santamaria, L.
    Castiglia, D.
    De Luca, N.
    Torrelo, A.
    Mechan, D.
    Baty, D.
    Zambruno, G.
    Escamez, M. J.
    Del Rio, M.
    BRITISH JOURNAL OF DERMATOLOGY, 2011, 165 (03) : 683 - 692
  • [3] A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex
    Dettwiler, M.
    Leuthard, F.
    Bauer, A.
    Jagannathan, V.
    Lourenco, A. M.
    Pereira, H.
    Leeb, T.
    Welle, M. M.
    ANIMAL GENETICS, 2020, 51 (05) : 829 - 832
  • [4] Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype
    Arin, M. J.
    Grimberg, G.
    Schumann, H.
    de Almeida, H., Jr.
    Chang, Y. -R.
    Tadini, G.
    Kohlhase, J.
    Krieg, T.
    Bruckner-Tuderman, L.
    Has, C.
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 162 (06) : 1365 - 1369
  • [5] KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family
    Vahidnezhad, Hassan
    Youssefian, Leila
    Saeidian, Amir Hossein
    Mozafari, Nikoo
    Barzegar, Mohammadreza
    Sotoudeh, Soheila
    Daneshpazhooh, Maryam
    Isaian, Anna
    Zeinali, Sirous
    Uitto, Jouni
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (09) : 1897 - 1901
  • [6] Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation
    Wertheim-Tysarowska, K.
    Oldak, M.
    Giza, A.
    Kutkowska-Kazmierczak, A.
    Sota, J.
    Przybylska, D.
    Wozniak, K.
    Sniegorska, D.
    Niepokoj, K.
    Sobczynska-Tomaszewska, A.
    Rygiel, A. M.
    Ploski, R.
    Bal, J.
    Kowalewski, C.
    JOURNAL OF APPLIED GENETICS, 2016, 57 (02) : 175 - 181
  • [7] A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations
    Wakiguchi, Hiroyuki
    Hasegawa, Shunji
    Maeba, Shinji
    Kimura, Sasagu
    Ito, Satoko
    Tateishi, Hiroshi
    Ueda, Kazuhiro
    Ohga, Shouichi
    AJP REPORTS, 2016, 6 (01): : E108 - E111
  • [8] Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: Strategy to avoid KRT14 pseudogene amplification by a simple approach
    Oldak, Monika
    Kowalewski, Cezary
    Maksym, Radoslaw B.
    Wozniak, Katarzyna
    Pollak, Agnieszka
    Podgorska, Marta
    Wnorowski, Artur
    Kosinska, Joanna
    Ploski, Rafal
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2010, 57 (01) : 69 - 70
  • [9] Efficient KRT14 Targeting and Functional Characterization of Transplanted Human Keratinocytes for the Treatment of Epidermolysis Bullosa Simplex
    Petek, Lisa M.
    Fleckman, Philip
    Miller, Daniel G.
    MOLECULAR THERAPY, 2010, 18 (09) : 1624 - 1632
  • [10] Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation
    Gong, Zhuoqing
    Zou, Xueke
    Xue, Ruoning
    Zhu, Xuejun
    Jiang, Xingyuan
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2023, 110 (01) : 27 - 30