1 Ocak 2021 Dergi makalesi Açık Erişim

Berkay, Ezgi Gizem; Elkanova, Leyla; Kalayci, Tugba; Uludag Alkaya, Dilek; Altunoglu, Umut; Cefle, Kivanc; Mihci, Ercan; Nur, Banu; Tasdelen, Elifcan; Bayramoglu, Zuhal; Karaman, Volkan; Toksoy, Guven; Gunes, Nilay; ozturk, Sukru; Palanduz, Sukru; Kayserili, Hulya; Tuysuz, Beyhan; Uyguner, Zehra Oya

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    "communities": [
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        "id": "tubitak-destekli-proje-yayinlari"
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    "creators": [
      {
        "affiliation": "Istanbul Univ, Dept Med Genet, Istanbul Med Fac, TR-34093 Istanbul, Turkey", 
        "name": "Berkay, Ezgi Gizem"
      }, 
      {
        "affiliation": "Cerrahpasa Med Sch, Istanbul Univ Cerrahpasa, Dept Pediat Genet, Istanbul, Turkey", 
        "name": "Elkanova, Leyla"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Med Fac, Dept Internal Med, Div Med Genet, Istanbul, Turkey", 
        "name": "Kalayci, Tugba"
      }, 
      {
        "affiliation": "Cerrahpasa Med Sch, Istanbul Univ Cerrahpasa, Dept Pediat Genet, Istanbul, Turkey", 
        "name": "Uludag Alkaya, Dilek"
      }, 
      {
        "affiliation": "Koc Univ, Sch Med KUSoM, Med Genet Dept, Istanbul, Turkey", 
        "name": "Altunoglu, Umut"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Med Fac, Dept Internal Med, Div Med Genet, Istanbul, Turkey", 
        "name": "Cefle, Kivanc"
      }, 
      {
        "affiliation": "Akdeniz Univ, Med Sch, Dept Pediat, Div Med Genet, Antalya, Turkey", 
        "name": "Mihci, Ercan"
      }, 
      {
        "affiliation": "Akdeniz Univ, Med Sch, Dept Pediat, Div Med Genet, Antalya, Turkey", 
        "name": "Nur, Banu"
      }, 
      {
        "affiliation": "Ankara Univ, Sch Med, Dept Med Genet, Ankara, Turkey", 
        "name": "Tasdelen, Elifcan"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Med Fac, Dept Radiol, Istanbul, Turkey", 
        "name": "Bayramoglu, Zuhal"
      }, 
      {
        "affiliation": "Istanbul Univ, Dept Med Genet, Istanbul Med Fac, TR-34093 Istanbul, Turkey", 
        "name": "Karaman, Volkan"
      }, 
      {
        "affiliation": "Istanbul Univ, Dept Med Genet, Istanbul Med Fac, TR-34093 Istanbul, Turkey", 
        "name": "Toksoy, Guven"
      }, 
      {
        "affiliation": "Cerrahpasa Med Sch, Istanbul Univ Cerrahpasa, Dept Pediat Genet, Istanbul, Turkey", 
        "name": "Gunes, Nilay"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Med Fac, Dept Internal Med, Div Med Genet, Istanbul, Turkey", 
        "name": "ozturk, Sukru"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Med Fac, Dept Internal Med, Div Med Genet, Istanbul, Turkey", 
        "name": "Palanduz, Sukru"
      }, 
      {
        "name": "Kayserili, Hulya"
      }, 
      {
        "affiliation": "Cerrahpasa Med Sch, Istanbul Univ Cerrahpasa, Dept Pediat Genet, Istanbul, Turkey", 
        "name": "Tuysuz, Beyhan"
      }, 
      {
        "affiliation": "Istanbul Univ, Dept Med Genet, Istanbul Med Fac, TR-34093 Istanbul, Turkey", 
        "name": "Uyguner, Zehra Oya"
      }
    ], 
    "description": "Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrelated families are herein presented. In a majority of the patients, facial abnormalities, such as delayed fontanel closure (89%), parietal and frontal bossing (80%), metopic groove (77%), midface hypoplasia (94%), and abnormal mobility of shoulders (90%), were recorded following clinical examination. In approximately one-half of the subjects, wormian bone (51%), short stature (43%), bell-shaped thorax (42%), wide pubic symphysis (50%), hypoplastic iliac wing (59%), and chef's hat sign (44%) presented in available radiological examinations. Scoliosis was identified in 28% of the patients. Investigation of RUNX2 revealed small sequence alterations in 90% and gross deletions in 10% of the patients; collectively, 23 variants including 11 novel changes (c.29_30insT, c.203delAinsCG, c.423 + 2delT, c.443_454delTACCAGATGGGAinsG, c.505C > T, c.594_595delCTinsG, c.636_637insC, c.685 + 5G > A, c.1088G > T, c.1281delC, Exon 6-9 deletion) presented high allelic heterogeneity. Novel c.29_30insT is unique in affecting the P1-driven long isoform of RUNX2, which is expected to disrupt the N-terminal region of RUNX2; this was shown in two unrelated phenotypically discordant patients. The clinical findings highlighted mild intra-familial genotype-phenotype correlation in our CCD cohort.", 
    "doi": "10.1002/ajmg.a.62261", 
    "has_grant": false, 
    "journal": {
      "issue": "8", 
      "pages": "2488-2495", 
      "title": "AMERICAN JOURNAL OF MEDICAL GENETICS PART A", 
      "volume": "185"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2021-01-01", 
    "relations": {
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    "resource_type": {
      "subtype": "article", 
      "title": "Dergi makalesi", 
      "type": "publication"
    }, 
    "science_branches": [
      "Di\u011fer"
    ], 
    "title": "Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey"
  }, 
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