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Human Molecular Genetics Advance Access originally published online on July 15, 2003
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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


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