dc.contributor.author | Lefevre, C | |
dc.contributor.author | Bouadjar, B | |
dc.contributor.author | Karaduman, A | |
dc.contributor.author | Jobard, F | |
dc.contributor.author | Saker, S | |
dc.contributor.author | Ozguc, M | |
dc.contributor.author | Lathrop, M | |
dc.contributor.author | Prud'homme, JF | |
dc.contributor.author | Fischer, J | |
dc.date.accessioned | 2019-12-10T10:52:36Z | |
dc.date.available | 2019-12-10T10:52:36Z | |
dc.date.issued | 2004 | |
dc.identifier.issn | 0964-6906 | |
dc.identifier.uri | https://doi.org/10.1093/hmg/ddh263 | |
dc.identifier.uri | http://hdl.handle.net/11655/14560 | |
dc.description.abstract | 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 buttocks, 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. | |
dc.language.iso | en | |
dc.publisher | Oxford Univ Press | |
dc.relation.isversionof | 10.1093/hmg/ddh263 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Biochemistry & Molecular Biology | |
dc.subject | Genetics & Heredity | |
dc.title | Mutations In Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | Human Molecular Genetics | |
dc.contributor.department | Deri ve Zührevi Hastalıkları | |
dc.identifier.volume | 13 | |
dc.identifier.issue | 20 | |
dc.identifier.startpage | 2473 | |
dc.identifier.endpage | 2482 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |