Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

被引：13
作者：
Akiyama, M. [1 ]
Sakai, K. [1 ]
Hatamochi, A. [2 ]
Yamazaki, S. [2 ]
Mcmillan, J. R. [1 ]
Shimizu, H. [1 ]
机构：
[1] Hokkaido Univ, Dept Dermatol, Grad Sch Med, Kita Ku, Sapporo, Hokkaido 0608638, Japan
[2] Dokkyo Univ, Sch Med, Dept Dermatol, Tochigi, Japan
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2008年 / 158卷 / 04期
关键词：
ATP-binding cassette transporter; barrier function; ichthyosis; lipid;
D O I：
10.1111/j.1365-2133.2008.08439.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：864 / 867
页数：5
相关论文
共 10 条
  • [1] A novel ABCA12 mutation 3270delT causes harlequin ichthyosis
    Akiyama, M.
    Sakai, K.
    Wolff, G.
    Hausser, I.
    McMillan, J. R.
    Sawamura, D.
    Shimizu, H.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (05) : 1064 - 1066
  • [2] The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis
    Akiyama, M
    Sawamura, D
    Shimizu, H
    [J]. CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2003, 28 (03) : 235 - 240
  • [3] Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
    Akiyama, M
    Sugiyama-Nakagiri, Y
    Sakai, K
    McMillan, JR
    Goto, M
    Arita, K
    Tsuji-Abe, Y
    Tabata, N
    Matsuoka, K
    Sasaki, R
    Sawamura, D
    Shimizu, H
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (07) : 1777 - 1784
  • [4] Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34
    Annilo, T
    Shulenin, S
    Chen, ZQ
    Arnould, I
    Prades, C
    Lemoine, C
    Maintoux-Larois, C
    Devaud, C
    Dean, M
    Denèfle, P
    Rosier, M
    [J]. CYTOGENETIC AND GENOME RESEARCH, 2002, 98 (2-3) : 169 - 176
  • [5] Mammalian ABC transporters in health and disease
    Borst, P
    Elferink, RO
    [J]. ANNUAL REVIEW OF BIOCHEMISTRY, 2002, 71 : 537 - 592
  • [6] Kelsell DP, 2005, AM J HUM GENET, V76, P794
  • [7] Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
    Lefèvre, C
    Audebert, S
    Jobard, F
    Bouadjar, B
    Lakhdar, H
    Boughdene-Stambouli, O
    Blanchet-Bardon, C
    Heilig, R
    Foglio, M
    Weissenbach, J
    Lathrop, M
    Prud'homme, JF
    Fischer, J
    [J]. HUMAN MOLECULAR GENETICS, 2003, 12 (18) : 2369 - 2378
  • [8] Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia
    Natsuga, Ken
    Akiyama, Masashi
    Kato, Naoko
    Sakai, Kaori
    Sugiyama-Nakagiri, Yoriko
    Nishimura, Machiko
    Hata, Hiroo
    Abe, Masataka
    Arita, Ken
    Tsuji-Abe, Yukiko
    Onozuka, Takashi
    Aoyagi, Satoru
    Kodama, Kazuo
    Ujiie, Hideyuki
    Tomita, Yuki
    Shimizu, Hiroshi
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (11) : 2669 - 2673
  • [9] Characterization of the ABCA transporter subfamily:: Identification of prokaryotic and eukaryotic members, phylogeny and topology
    Peelman, F
    Labeur, C
    Vanloo, B
    Roosbeek, S
    Devaud, C
    Duverger, N
    Denèfle, P
    Rosier, M
    Vandekerckhove, J
    Rosseneu, M
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 2003, 325 (02) : 259 - 274
  • [10] A novel ABCA12 mutation underlying a case of Harlequin ichthyosis
    Rajpar, SF
    Cullup, T
    Kelsell, DP
    Moss, C
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (01) : 204 - 206
1