Human Molecular Genetics Advance Access published online on January 25, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddi491
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1 Centre National de Génotypage, Evry, France
* To whom correspondence should be addressed. 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). 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-
Received November 4, 2005
Revised January 5, 2006
Accepted January 18, 2006
Article
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
Caroline Lefèvre 1,
Bakar Bouadjar 2,
Véronique Ferrand 1,
Gianluca Tadini 3,
André Mégarbané 4,
Mark Lathrop 1,
Jean-François Prud'homme 5,
and
Judith Fischer 1 *
2 Department of Dermatology, CHU Bab-El-Oued, Algiers, Algeria
3 Center for Inherited Cutaneous Diseases, Institute of Dermatological Sciences, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
4 Department of Medical Genetics, Faculty of Medecine, Saint-Joseph University, Beirut, Lebanon
5 Généthon, Evry, France
Judith Fischer, E-mail: fischer{at}cng.fr
Abstract 
-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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