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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{
  "DOI": "10.1002/ajmg.a.62261", 
  "abstract": "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.", 
  "author": [
    {
      "family": "Berkay", 
      "given": " Ezgi Gizem"
    }, 
    {
      "family": "Elkanova", 
      "given": " Leyla"
    }, 
    {
      "family": "Kalayci", 
      "given": " Tugba"
    }, 
    {
      "family": "Uludag Alkaya", 
      "given": " Dilek"
    }, 
    {
      "family": "Altunoglu", 
      "given": " Umut"
    }, 
    {
      "family": "Cefle", 
      "given": " Kivanc"
    }, 
    {
      "family": "Mihci", 
      "given": " Ercan"
    }, 
    {
      "family": "Nur", 
      "given": " Banu"
    }, 
    {
      "family": "Tasdelen", 
      "given": " Elifcan"
    }, 
    {
      "family": "Bayramoglu", 
      "given": " Zuhal"
    }, 
    {
      "family": "Karaman", 
      "given": " Volkan"
    }, 
    {
      "family": "Toksoy", 
      "given": " Guven"
    }, 
    {
      "family": "Gunes", 
      "given": " Nilay"
    }, 
    {
      "family": "ozturk", 
      "given": " Sukru"
    }, 
    {
      "family": "Palanduz", 
      "given": " Sukru"
    }, 
    {
      "family": "Kayserili", 
      "given": " Hulya"
    }, 
    {
      "family": "Tuysuz", 
      "given": " Beyhan"
    }, 
    {
      "family": "Uyguner", 
      "given": " Zehra Oya"
    }
  ], 
  "container_title": "AMERICAN JOURNAL OF MEDICAL GENETICS PART A", 
  "id": "231512", 
  "issue": "8", 
  "issued": {
    "date-parts": [
      [
        2021, 
        1, 
        1
      ]
    ]
  }, 
  "page": "2488-2495", 
  "title": "Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey", 
  "type": "article-journal", 
  "volume": "185"
}