1 Ocak 2014 Dergi makalesi Açık Erişim

Caglayan, Ahmet Okay; Baranoski, Jacob E.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Asian; Guclu, Bulent; Kaymakcalan, Hande; Aktekin, Berrin; Akgumus, Gozde Tugce; Murray, Phillip B.; Erson-Omay, Emine Z.; Caglar, Caner; Bakircioglu, Mehmet; Sakalar, Yildirim Bayezit; Guzel, Ebru; Demir, Nihat; Tuncer, Oguz; Senturk, Senem; Ekici, Saris; Ekici, Saris

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{
  "@context": "https://schema.org/", 
  "@id": 64339, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "name": "Caglayan, Ahmet Okay"
    }, 
    {
      "@type": "Person", 
      "name": "Baranoski, Jacob E."
    }, 
    {
      "@type": "Person", 
      "affiliation": "Diyarbakir State Hosp, Dept Pediat, Diyarbakir, Turkey", 
      "name": "Aktar, Fesih"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Yale Univ, Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA", 
      "name": "Han, Wengi"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Dept Pediat, Div Genet, Cerrahpasa Fac Med, Istanbul, Turkey", 
      "name": "Tuysuz, Beyhan"
    }, 
    {
      "@type": "Person", 
      "name": "Guzel, Asian"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Sevket Yilmaz Educ & Res Hosp, Dept Neurosurg, Bursa, Turkey", 
      "name": "Guclu, Bulent"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Bahcesehir Univ, Dept Genet & Bioinformat, Istanbul, Turkey", 
      "name": "Kaymakcalan, Hande"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Akdeniz Univ, Fac Med, Dept Neurol, TR-07058 Antalya, Turkey", 
      "name": "Aktekin, Berrin"
    }, 
    {
      "@type": "Person", 
      "name": "Akgumus, Gozde Tugce"
    }, 
    {
      "@type": "Person", 
      "name": "Murray, Phillip B."
    }, 
    {
      "@type": "Person", 
      "name": "Erson-Omay, Emine Z."
    }, 
    {
      "@type": "Person", 
      "name": "Caglar, Caner"
    }, 
    {
      "@type": "Person", 
      "name": "Bakircioglu, Mehmet"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Dicle Univ, Fac Med, Dept Ophthalmol, Diyarbakir, Turkey", 
      "name": "Sakalar, Yildirim Bayezit"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Med Pk Hosp, Dept Radiol, Gaziantep, Turkey", 
      "name": "Guzel, Ebru"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Yuzuncu Yil Univ, Dept Pediat, Van, Turkey", 
      "name": "Demir, Nihat"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Yuzuncu Yil Univ, Dept Pediat, Van, Turkey", 
      "name": "Tuncer, Oguz"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Medeniyet Univ, Goztepe Educ & Res Hosp, Dept Radiol, Istanbul, Turkey", 
      "name": "Senturk, Senem"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Fac Med, Dept Pediat, Istanbul, Turkey", 
      "name": "Ekici, Saris"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Fac Med, Dept Pediat, Istanbul, Turkey", 
      "name": "Ekici, Saris"
    }
  ], 
  "datePublished": "2014-01-01", 
  "description": "BACKGROUND: Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS: Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS: We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. On further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development, and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS: This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1. mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of an encephalocele.", 
  "headline": "Brain Malformations Associated With Knobloch Syndrome-Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations", 
  "identifier": 64339, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Brain Malformations Associated With Knobloch Syndrome-Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations", 
  "url": "https://aperta.ulakbim.gov.tr/record/64339"
}