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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
Human Molecular Genetics, Volume 15, No. 5, Year 2006
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Description
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-ω-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. © The Author 2006. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Lefèvre, Caroline
France, Evry
Centre National de Recherche en Génomique Humaine
Bouadjar, Bakar
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Ferrand, Véronique
France, Evry
Centre National de Recherche en Génomique Humaine
Tadini, Gianluca
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Lathrop, Mark G.
France, Evry
Centre National de Recherche en Génomique Humaine
Prud'Homme, Jean François
France, Evry
Généthon
Fischer, Judith
France, Evry
Centre National de Recherche en Génomique Humaine
Statistics
Citations: 187
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1093/hmg/ddi491
ISSN:
09646906
Research Areas
Genetics And Genomics
Substance Abuse
Study Locations
Algeria