1 Ocak 2004 Dergi makalesi Açık Erişim

Lefevre, C; Bouadjar, B; Karaduman, A; Jobard, F; Saker, S; Ozguc, M; Lathrop, M; Prud'homme, JF; Fischer, J

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{
  "DOI": "10.1093/hmg/ddh263", 
  "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.", 
  "author": [
    {
      "family": "Lefevre", 
      "given": " C"
    }, 
    {
      "family": "Bouadjar", 
      "given": " B"
    }, 
    {
      "family": "Karaduman", 
      "given": " A"
    }, 
    {
      "family": "Jobard", 
      "given": " F"
    }, 
    {
      "family": "Saker", 
      "given": " S"
    }, 
    {
      "family": "Ozguc", 
      "given": " M"
    }, 
    {
      "family": "Lathrop", 
      "given": " M"
    }, 
    {
      "family": "Prud'homme", 
      "given": " JF"
    }, 
    {
      "family": "Fischer", 
      "given": " J"
    }
  ], 
  "container_title": "HUMAN MOLECULAR GENETICS", 
  "id": "94701", 
  "issue": "20", 
  "issued": {
    "date-parts": [
      [
        2004, 
        1, 
        1
      ]
    ]
  }, 
  "page": "2473-2482", 
  "title": "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis", 
  "type": "article-journal", 
  "volume": "13"
}