1 Ocak 2015 Dergi makalesi Açık Erişim

Yigit, Goekhan; Brown, Karen E.; Kayserili, Hulya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Boegershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nuernberg, Gudrun; Nuernberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd

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{
  "@context": "https://schema.org/", 
  "@id": 82313, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "name": "Yigit, Goekhan"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Hammersmith Hosp, Imperial Coll Sch Med, MRC Clin Sci Ctr, Chromosome Biol Grp, London W12 0NN, England", 
      "name": "Brown, Karen E."
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey", 
      "name": "Kayserili, Hulya"
    }, 
    {
      "@type": "Person", 
      "name": "Pohl, Esther"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Christian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany", 
      "name": "Caliebe, Almuth"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Friedrich Alexander Univ Erlangen Nuremberg, Inst Human Genet, Erlangen, Germany", 
      "name": "Zahnleiter, Diana"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Great Ormond St Hosp Sick Children, Dept Clin Genet, London WC1N 3EH, England", 
      "name": "Rosser, Elisabeth"
    }, 
    {
      "@type": "Person", 
      "name": "Boegershausen, Nina"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey", 
      "name": "Uyguner, Zehra Oya"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey", 
      "name": "Altunoglu, Umut"
    }, 
    {
      "@type": "Person", 
      "name": "Nuernberg, Gudrun"
    }, 
    {
      "@type": "Person", 
      "name": "Nuernberg, Peter"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Zurich, Inst Med Genet, Schwerzenbach, Switzerland", 
      "name": "Rauch, Anita"
    }, 
    {
      "@type": "Person", 
      "name": "Li, Yun"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Friedrich Alexander Univ Erlangen Nuremberg, Inst Human Genet, Erlangen, Germany", 
      "name": "Thiel, Christian Thomas"
    }, 
    {
      "@type": "Person", 
      "name": "Wollnik, Bernd"
    }
  ], 
  "datePublished": "2015-01-01", 
  "description": "Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Here, we describe the novel homozygous splice-site mutations c. 383+ 1G>C and c. 4005-9A>G in CDK5RAP2 in two consanguineous families with Seckel syndrome. CDK5RAP2 (CEP215) encodes a centrosomal protein which is known to be essential for centrosomal cohesion and proper spindle formation and has been shown to be causally involved in autosomal recessive primary microcephaly. We establish CDK5RAP2 as a disease-causing gene for Seckel syndrome and show that loss of functional CDK5RAP2 leads to severe defects in mitosis and spindle organization, resulting in cells with abnormal nuclei and centrosomal pattern, which underlines the important role of centrosomal and mitotic proteins in the pathogenesis of the disease. Additionally, we present an intriguing case of possible digenic inheritance in Seckel syndrome: A severely affected child of nonconsanguineous German parents was found to carry heterozygous mutations in CDK5RAP2 and CEP152. This finding points toward a potential additive genetic effect of mutations in CDK5RAP2 and CEP152.", 
  "headline": "Mutations in CDK5RAP2 cause Seckel syndrome", 
  "identifier": 82313, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Mutations in CDK5RAP2 cause Seckel syndrome", 
  "url": "https://aperta.ulakbim.gov.tr/record/82313"
}