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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
Human Molecular Genetics, Volume 13, No. 20, Year 2004
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Description
We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ichthyosiform erythroderma with fine whitish scaling on an erythrodermal background; larger brownish scales are present on the bullocks, neck and legs. A few patients presented a more generalized lamellar ichthyosis. Palmoplantar keratoderma was present in all cases, whereas only 60% of the patients were born as collodion babies. Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in 23 patients from 14 consanguineous families from Algeria, Colombia, Syria and Turkey. Ichthyin encodes a protein with several transmembrane domains which belongs to a new family of proteins of unknown function localized in the plasma membrane (PFAM: DUF803), with homologies to both transporters and G-protein coupled receptors. This family includes NIPA1, in which a mutation was recently described in a dominant form of spastic paraplegia (SPG6). We propose that ichthyin and NIPA1 are membrane receptors for ligands (trioxilins A3 and B3) from the hepoxilin pathway. © Oxford University Press 2004; 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
Karaduman, Ayşen A.
Turkey, Ankara
Hacettepe Üniversitesi
Jobard, Florence
France, Evry
Centre National de Recherche en Génomique Humaine
Saker, Safaa
France, Evry
Généthon
Özguc, Meral
Turkey, Ankara
Hacettepe Üniversitesi
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: 9
Authors: 9
Affiliations: 4
Identifiers
Doi:
10.1093/hmg/ddh263
ISSN:
09646906
Research Areas
Cancer
Genetics And Genomics
Study Locations
Algeria