Identification of mutations in SDR9C7 in three patients with autosomal recessive congenital ichthyosis

被引:0
|
作者
Mazereeuw-Hautier, J. [1 ,2 ]
Severino-Freire, M. [2 ]
Texier, H. [2 ]
Vincent, M. [3 ]
Aubert, H. [4 ]
Morice-Picard, F. [5 ]
Jonca, N. [1 ]
机构
[1] INSERM, UMR1056, Toulouse, France
[2] Toulouse Univ Hosp, Reference Ctr Rare Skin Dis, Dept Dermatol, Toulouse, France
[3] Nantes Univ Hosp, Dept Genet, Nantes, France
[4] Nantes Univ Hosp, Dept Dermatol, Nantes, France
[5] Bordeaux Univ Hosp, Dept Dermatol, Reference Ctr Rare Skin Dis, Bordeaux, France
关键词
D O I
10.1016/j.jid.2019.07.298
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
297
引用
收藏
页码:S265 / S265
页数:1
相关论文
共 50 条
  • [31] Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis
    Esposito, G
    Auricchio, L
    Rescigno, G
    Paparo, F
    Rinaldi, M
    Salvatore, F
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 116 (05) : 809 - 812
  • [32] Clinical heterogeneity in autosomal recessive congenital ichthyosis due to NIPAL4/ichthyin mutations
    Ngu, S. T.
    Cordey, H.
    Affleck, A.
    Terron-Kwiatowski, A.
    Baty, D.
    Goudie, D.
    Brown, S. J.
    Jury, C.
    Zamiri, M.
    BRITISH JOURNAL OF DERMATOLOGY, 2015, 173 : 77 - 78
  • [33] Autosomal recessive congenital ichthyosis:: Mutations in ichthyin associated with structural abnormalities in the granular layer of epidermis
    Dahlqvist, I.
    Klar, J.
    Hausser, I.
    Anton-Lamprecht, I.
    Pigg, M. Hellstroem
    Gedde-Dahl, T., Jr.
    Ganemo, A.
    Vahlquist, A.
    Dahl, N.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2008, 128 (03) : 763 - 763
  • [34] Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis
    Feng, C.
    Wang, H.
    Lee, M.
    Zhao, J.
    Lin, Z.
    Yang, Y.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2017, 42 (01) : 98 - 100
  • [35] Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
    Diociaiuti, A.
    Pisaneschi, E.
    Zambruno, G.
    Angioni, A.
    Novelli, A.
    Boldrini, R.
    El Hachem, M.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2018, 32 (03) : E110 - E112
  • [36] Novel Compound Heterozygous Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis
    Kirchmeier, P.
    Oji, V.
    Schlipf, N.
    Hodler, C.
    Zeschnigk, C.
    Fischer, J.
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2014, 12 : 21 - 22
  • [37] Skin histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation
    Yang, C.
    Pomerantz, H.
    Corwin, J.
    Weinstock, M. A.
    Fleckman, P.
    DiGiovanna, J. J.
    Robinson-Bostom, L.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 : S34 - S34
  • [38] SDR9C7 catalyzes the critical dehydrogenation of acylceramides for skin barrier formation
    Takeichi, T.
    Hirabayashi, T.
    Miyasaka, Y.
    Kawamoto, A.
    Okuno, Y.
    Taguchi, S.
    Tanahashi, K.
    Murase, C.
    Takama, H.
    Tanaka, K.
    Boeglin, W.
    Calcutt, M.
    Watanabe, D.
    Kono, M.
    Muro, Y.
    Ishikawa, J.
    Ohno, T.
    Brash, A. R.
    Akiyama, M.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2021, 141 (05) : S21 - S21
  • [39] Autosomal recessive congenital ichthyosis in Sweden and Estonia:: Clinical, genetic and ultrastructural findings in eighty-three patients
    Gånemo, A
    Pigg, M
    Virtanen, M
    Kukk, T
    Raudsepp, H
    Rossman-Ringdahl, I
    Westermark, P
    Niemi, KM
    Dahl, N
    Vahlquist, A
    ACTA DERMATO-VENEREOLOGICA, 2003, 83 (01) : 24 - 30
  • [40] Knock-down of SDR9C7 impairs epidermal barrier function
    Youssefian, L.
    Saeidian, A.
    South, A.
    Khosravi, F.
    Khodavaisy, S.
    Vahidnezhad, H.
    Uitto, J.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2021, 141 (05) : S31 - S31