Skip Navigation


Human Molecular Genetics Advance Access originally published online on July 15, 2003
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
12/18/2369    most recent
ddg235v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (78)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Lefèvre, C.
Right arrow Articles by Fischer, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Lefèvre, C.
Right arrow Articles by Fischer, J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2003, Vol. 12, No. 18 2369-2378
DOI: 10.1093/hmg/ddg235
© 2003 Oxford University Press

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Caroline Lefèvre1, Stéphanie Audebert1, Florence Jobard1, Bakar Bouadjar2, Hakima Lakhdar3, Omar Boughdene-Stambouli4, Claudine Blanchet-Bardon5, Roland Heilig6, Mario Foglio1, Jean Weissenbach6, Mark Lathrop1, Jean-François Prud'homme7 and Judith Fischer1,*

1Centre National de Génotypage, Evry, France, 2Department of Dermatology, CHU Bab-El-Oued, Algiers, Algeria, 3Department of Dermatology, CHU Ibn Rochd, Casablanca, Morocco, 4Department of Dermatology, CHU T Djamerni, Tlemcen, Algeria, 5Department of Dermatology, CHU Saint-Louis, Paris, France, 6Centre National de Séquençage, Genoscope, Evry, France and 7Généthon, Evry, France

Received May 26, 2003; Accepted July 8, 2003

Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33–35. We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. The mutations were homozygous in eight consanguineous families and heterozygous in one non-consanguineous family. Four of these mutations are localized in the first ATP-binding domain (nucleotide-binding fold), which is highly conserved in all ABC proteins. The ABCA12 protein belongs to a superfamily of membrane proteins that translocate a variety of substrates across extra- and intracellular membranes. ABCA transporters have been implicated in several autosomal recessive disorders, notably of lipid metabolism. By analogy with ABCA3, a lamellar body membrane protein in lung alveolar type II cells, ABCA12 could function in cellular lipid trafficking in keratinocytes.

* To whom correspondence should be addressed. Tel: +33 160878357; Fax: +33 160878383; Email: fischer{at}cng.fr


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Biol. Chem.Home page
Y. J. Jiang, Y. Uchida, B. Lu, P. Kim, C. Mao, M. Akiyama, P. M. Elias, W. M. Holleran, C. Grunfeld, and K. R. Feingold
Ceramide Stimulates ABCA12 Expression via Peroxisome Proliferator-activated Receptor {delta} in Human Keratinocytes
J. Biol. Chem., July 10, 2009; 284(28): 18942 - 18952.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S Farasat, M-H Wei, M Herman, D J Liewehr, S M Steinberg, S J Bale, P Fleckman, and J R Toro
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
J. Med. Genet., February 1, 2009; 46(2): 103 - 111.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
Y. Zuo, D. Z. Zhuang, R. Han, G. Isaac, J. J. Tobin, M. McKee, R. Welti, J. L. Brissette, M. L. Fitzgerald, and M. W. Freeman
ABCA12 Maintains the Epidermal Lipid Permeability Barrier by Facilitating Formation of Ceramide Linoleic Esters
J. Biol. Chem., December 26, 2008; 283(52): 36624 - 36635.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. Yanagi, M. Akiyama, H. Nishihara, K. Sakai, W. Nishie, S. Tanaka, and H. Shimizu
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects
Hum. Mol. Genet., October 1, 2008; 17(19): 3075 - 3083.
[Abstract] [Full Text] [PDF]

Home page
 J. Lipid Res.Home page
P. M. Elias, M. L. Williams, W. M. Holleran, Y. J. Jiang, and M. Schmuth
Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism
J. Lipid Res., April 1, 2008; 49(4): 697 - 714.
[Abstract] [Full Text] [PDF]

Home page
 Vet PatholHome page
E. A. Mauldin, K. M. Credille, R. W. Dunstan, and M. L. Casal
The Clinical and Morphologic Features of Nonepidermolytic Ichthyosis in the Golden Retriever
Vet. Pathol., March 1, 2008; 45(2): 174 - 180.
[Abstract] [Full Text] [PDF]

Home page
 Arch DermatolHome page
M. Harting, N. Brunetti-Pierri, C. S. Chan, J. Kirby, M. K. Dishop, G. Richard, F. Scaglia, A. C. Yan, and M. L. Levy
Self-Healing Collodion Membrane and Mild Nonbullous Congenital Ichthyosiform Erythroderma Due to 2 Novel Mutations in the ALOX12B Gene
Arch Dermatol, March 1, 2008; 144(3): 351 - 356.
[Abstract] [Full Text] [PDF]

Home page
 Circ. Res.Home page
M. A. Burke, R. K. Mutharasan, and H. Ardehali
The Sulfonylurea Receptor, an Atypical ATP-Binding Cassette Protein, and Its Regulation of the KATP Channel
Circ. Res., February 1, 2008; 102(2): 164 - 176.
[Abstract] [Full Text] [PDF]

Home page
 J. Lipid Res.Home page
K. R. Feingold
Thematic review series: Skin Lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis
J. Lipid Res., December 1, 2007; 48(12): 2531 - 2546.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
D. Halter, S. Neumann, S. M. van Dijk, J. Wolthoorn, A. M. de Maziere, O. V. Vieira, P. Mattjus, J. Klumperman, G. van Meer, and H. Sprong
Pre- and post-Golgi translocation of glucosylceramide in glycosphingolipid synthesis
J. Cell Biol., October 8, 2007; 179(1): 101 - 115.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J Dahlqvist, J Klar, I Hausser, I Anton-Lamprecht, M H. Pigg, T Gedde-Dahl Jr, A Ganemo, A Vahlquist, and N Dahl
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
J. Med. Genet., October 1, 2007; 44(10): 615 - 620.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
H. Sakai, Y. Tanaka, M. Tanaka, N. Ban, K. Yamada, Y. Matsumura, D. Watanabe, M. Sasaki, T. Kita, and N. Inagaki
ABCA2 Deficiency Results in Abnormal Sphingolipid Metabolism in Mouse Brain
J. Biol. Chem., July 6, 2007; 282(27): 19692 - 19699.
[Abstract] [Full Text] [PDF]

Home page
 J. Histochem. Cytochem.Home page
M. T. Stahlman, V. Besnard, S. E. Wert, T. E. Weaver, S. Dingle, Y. Xu, K. von Zychlin, S. J. Olson, and J. A. Whitsett
Expression of ABCA3 in Developing Lung and Other Tissues
J. Histochem. Cytochem., January 1, 2007; 55(1): 71 - 83.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
V. Oji, J. M. Hautier, B. Ahvazi, I. Hausser, K. Aufenvenne, T. Walker, N. Seller, P. M. Steijlen, W. Kuster, A. Hovnanian, et al.
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype
Hum. Mol. Genet., November 1, 2006; 15(21): 3083 - 3097.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Respir. Crit. Care Med.Home page
F. Brasch, S. Schimanski, C. Muhlfeld, S. Barlage, T. Langmann, C. Aslanidis, A. Boettcher, A. Dada, H. Schroten, E. Mildenberger, et al.
Alteration of the Pulmonary Surfactant System in Full-Term Infants with Hereditary ABCA3 Deficiency
Am. J. Respir. Crit. Care Med., September 1, 2006; 174(5): 571 - 580.
[Abstract] [Full Text] [PDF]

Home page
 Arch DermatolHome page
M. Akiyama
Pathomechanisms of Harlequin Ichthyosis and ABCA Transporters in Human Diseases.
Arch Dermatol, July 1, 2006; 142(7): 914 - 918.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. Lefevre, B. Bouadjar, V. Ferrand, G. Tadini, A. Megarbane, M. Lathrop, J.-F. Prud'homme, and J. Fischer
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
Hum. Mol. Genet., March 1, 2006; 15(5): 767 - 776.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
W. S. Kim, M. L. Fitzgerald, K. Kang, K.-i. Okuhira, S. A. Bell, J. J. Manning, S. L. Koehn, N. Lu, K. J. Moore, and M. W. Freeman
Abca7 Null Mice Retain Normal Macrophage Phosphatidylcholine and Cholesterol Efflux Activity despite Alterations in Adipose Mass and Serum Cholesterol Levels
J. Biol. Chem., February 4, 2005; 280(5): 3989 - 3995.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. Lefevre, B. Bouadjar, A. Karaduman, F. Jobard, S. Saker, M. Ozguc, M. Lathrop, J.-F. Prud'homme, and J. Fischer
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
Hum. Mol. Genet., October 1, 2004; 13(20): 2473 - 2482.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J Klar, T Gedde-Dahl Jr, M Larsson, M Pigg, B Carlsson, D Tentler, A Vahlquist, and N Dahl
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13
J. Med. Genet., March 1, 2004; 41(3): 208 - 212.
[Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.