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Human Molecular Genetics, 2002, Vol. 11, No. 1 107-113
© 2002 Oxford University Press

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Florence Jobard, Caroline Lefèvre, Aysen Karaduman1, Claudine Blanchet-Bardon2, Serap Emre3, Jean Weissenbach4, Meral Özgüc3, Mark Lathrop, Jean-François Prud’homme5 and Judith Fischer+

Centre National de Génotypage, 91057 Evry, France, 1Department of Dermatology, Hacettepe University, Ankara, Turkey, 2Department of Dermatology, Saint-Louis Hospital, 75010 Paris, France, 3Department of Medical Biology and Tübytak DNA/Cell Bank, Hacettepe University, Ankara, Turkey, 4Genoscope and CNRS UMR 8030, 91057 Evry, France and 5Généthon, 91002 Evry, France

We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17. Linkage disequilibrium analysis of six families affected by NCIE permitted us to reduce a recently reported interval of 8.4 cM on chromosome 17p13.1 to a 600 kb region around the marker D17S1796, which contains LOX genes. LOX products have long been implicated in skin disorders. Two point mutations and one deletion were found in ALOXE3 and three point mutations were found in ALOX12B in these consanguineous families from the Mediterranean basin. ALOXE3 and ALOX12B are two genes which are physically linked and functionally related. They are separated by 38 kb, have one more exon than the other LOX genes and are mainly expressed in epithelial cells including keratinocytes. Although the main substrate(s) of the two enzymes is (are) still unknown, the products of ALOX12B obtained in experimental systems have been demonstrated to be of R-chirality. It seems likely that the product of one of these enzymes may be the substrate of the other, and that they belong to the same metabolic pathway.

+ To whom correspondence should be addressed. Tel: +33 1 60 87 83 57; Fax: +33 1 60 87 83 83; Email: fischer@cng.fr


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