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Human Molecular Genetics Advance Access originally published online on January 25, 2006
Human Molecular Genetics 2006 15(5):767-776; doi:10.1093/hmg/ddi491
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© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

Caroline Lefèvre1, Bakar Bouadjar3, Véronique Ferrand1, Gianluca Tadini4, André Mégarbané5, Mark Lathrop1, Jean-François Prud'homme2 and Judith Fischer1,*

1Centre National de Génotypage and 2Généthon, Evry, France, 3Department of Dermatology, CHU Bab-El-Oued, Algiers, Algeria, 4Center for Inherited Cutaneous Diseases, Institute of Dermatological Sciences, IRCCS Ospedale Maggiore Policlinico, Milan, Italy and 5Department of Medical Genetics, Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon

* To whom correspondence should be addressed. Tel: +213 33160878357; Fax: +213 33160878383; Email: fischer{at}cng.fr

Received November 4, 2005; Revised January 5, 2006; Accepted January 18, 2006

We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously identified locus on chromosome 19p12–q12, which has been defined as LI3 in the OMIM database (MIM 604777 [OMIM] ). The phenotype usually presents as lamellar ichthyosis and hyperlinearity of palms and soles. Seven homozygous mutations including five missense mutations and two deletions were identified in a new gene, FLJ39501, on chromosome 19p12 in 21 patients from 12 consanguineous families from Algeria, France, Italy and Lebanon. FLJ39501 encodes a protein which was found to be a cytochrome P450, family 4, subfamily F, polypeptide 2 homolog of the leukotriene B4-{omega}-hydroxylase (CYP4F2) and could catalyze the 20-hydroxylation of trioxilin A3 from the 12(R)-lipoxygenase pathway. Further oxidation of this substrate by the fatty alcohol:nicotinamide-adenine dinucleotide oxidoreductase (FAO) enzyme complex, in which one component, ALDH3A2, is known to be mutated in Sjögren–Larsson syndrome (characterized by ichthyosis and spastic paraplegia), would lead to 20-carboxy-(R)-trioxilin A3. This compound could be involved in skin hydration and would be the essential missing product in most forms of ARCI. Its chiral homolog, 20-carboxy-(S)-trioxilin A3, could be implicated in spastic paraplegia and in the maintenance of neuronal integrity.


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