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

Dublin Core

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<oai_dc:dc xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:oai_dc="http://www.openarchives.org/OAI/2.0/oai_dc/" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd">
  <dc:creator>Berkay, Ezgi Gizem</dc:creator>
  <dc:creator>Elkanova, Leyla</dc:creator>
  <dc:creator>Kalayci, Tugba</dc:creator>
  <dc:creator>Uludag Alkaya, Dilek</dc:creator>
  <dc:creator>Altunoglu, Umut</dc:creator>
  <dc:creator>Cefle, Kivanc</dc:creator>
  <dc:creator>Mihci, Ercan</dc:creator>
  <dc:creator>Nur, Banu</dc:creator>
  <dc:creator>Tasdelen, Elifcan</dc:creator>
  <dc:creator>Bayramoglu, Zuhal</dc:creator>
  <dc:creator>Karaman, Volkan</dc:creator>
  <dc:creator>Toksoy, Guven</dc:creator>
  <dc:creator>Gunes, Nilay</dc:creator>
  <dc:creator>ozturk, Sukru</dc:creator>
  <dc:creator>Palanduz, Sukru</dc:creator>
  <dc:creator>Kayserili, Hulya</dc:creator>
  <dc:creator>Tuysuz, Beyhan</dc:creator>
  <dc:creator>Uyguner, Zehra Oya</dc:creator>
  <dc:date>2021-01-01</dc:date>
  <dc: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 &gt; T, c.594_595delCTinsG, c.636_637insC, c.685 + 5G &gt; A, c.1088G &gt; 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.</dc:description>
  <dc:identifier>https://aperta.ulakbim.gov.trrecord/231512</dc:identifier>
  <dc:identifier>oai:aperta.ulakbim.gov.tr:231512</dc:identifier>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:rights>http://www.opendefinition.org/licenses/cc-by</dc:rights>
  <dc:source>AMERICAN JOURNAL OF MEDICAL GENETICS PART A 185(8) 2488-2495</dc:source>
  <dc:title>Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey</dc:title>
  <dc:type>info:eu-repo/semantics/article</dc:type>
  <dc:type>publication-article</dc:type>
</oai_dc:dc>