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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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/231512</identifier>
  <creators>
    <creator>
      <creatorName>Berkay, Ezgi Gizem</creatorName>
      <givenName>Ezgi Gizem</givenName>
      <familyName>Berkay</familyName>
      <affiliation>Istanbul Univ, Dept Med Genet, Istanbul Med Fac, TR-34093 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Elkanova, Leyla</creatorName>
      <givenName>Leyla</givenName>
      <familyName>Elkanova</familyName>
      <affiliation>Cerrahpasa Med Sch, Istanbul Univ Cerrahpasa, Dept Pediat Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Kalayci, Tugba</creatorName>
      <givenName>Tugba</givenName>
      <familyName>Kalayci</familyName>
      <affiliation>Istanbul Univ, Istanbul Med Fac, Dept Internal Med, Div Med Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Uludag Alkaya, Dilek</creatorName>
      <givenName>Dilek</givenName>
      <familyName>Uludag Alkaya</familyName>
      <affiliation>Cerrahpasa Med Sch, Istanbul Univ Cerrahpasa, Dept Pediat Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Altunoglu, Umut</creatorName>
      <givenName>Umut</givenName>
      <familyName>Altunoglu</familyName>
      <affiliation>Koc Univ, Sch Med KUSoM, Med Genet Dept, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Cefle, Kivanc</creatorName>
      <givenName>Kivanc</givenName>
      <familyName>Cefle</familyName>
      <affiliation>Istanbul Univ, Istanbul Med Fac, Dept Internal Med, Div Med Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Mihci, Ercan</creatorName>
      <givenName>Ercan</givenName>
      <familyName>Mihci</familyName>
      <affiliation>Akdeniz Univ, Med Sch, Dept Pediat, Div Med Genet, Antalya, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Nur, Banu</creatorName>
      <givenName>Banu</givenName>
      <familyName>Nur</familyName>
      <affiliation>Akdeniz Univ, Med Sch, Dept Pediat, Div Med Genet, Antalya, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Tasdelen, Elifcan</creatorName>
      <givenName>Elifcan</givenName>
      <familyName>Tasdelen</familyName>
      <affiliation>Ankara Univ, Sch Med, Dept Med Genet, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Bayramoglu, Zuhal</creatorName>
      <givenName>Zuhal</givenName>
      <familyName>Bayramoglu</familyName>
      <affiliation>Istanbul Univ, Istanbul Med Fac, Dept Radiol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Karaman, Volkan</creatorName>
      <givenName>Volkan</givenName>
      <familyName>Karaman</familyName>
      <affiliation>Istanbul Univ, Dept Med Genet, Istanbul Med Fac, TR-34093 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Toksoy, Guven</creatorName>
      <givenName>Guven</givenName>
      <familyName>Toksoy</familyName>
      <affiliation>Istanbul Univ, Dept Med Genet, Istanbul Med Fac, TR-34093 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Gunes, Nilay</creatorName>
      <givenName>Nilay</givenName>
      <familyName>Gunes</familyName>
      <affiliation>Cerrahpasa Med Sch, Istanbul Univ Cerrahpasa, Dept Pediat Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>ozturk, Sukru</creatorName>
      <givenName>Sukru</givenName>
      <familyName>ozturk</familyName>
      <affiliation>Istanbul Univ, Istanbul Med Fac, Dept Internal Med, Div Med Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Palanduz, Sukru</creatorName>
      <givenName>Sukru</givenName>
      <familyName>Palanduz</familyName>
      <affiliation>Istanbul Univ, Istanbul Med Fac, Dept Internal Med, Div Med Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Kayserili, Hulya</creatorName>
      <givenName>Hulya</givenName>
      <familyName>Kayserili</familyName>
    </creator>
    <creator>
      <creatorName>Tuysuz, Beyhan</creatorName>
      <givenName>Beyhan</givenName>
      <familyName>Tuysuz</familyName>
      <affiliation>Cerrahpasa Med Sch, Istanbul Univ Cerrahpasa, Dept Pediat Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Uyguner, Zehra Oya</creatorName>
      <givenName>Zehra Oya</givenName>
      <familyName>Uyguner</familyName>
      <affiliation>Istanbul Univ, Dept Med Genet, Istanbul Med Fac, TR-34093 Istanbul, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Skeletal And Molecular Findings In 51 Cleidocranial Dysplasia Patients From Turkey</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2021</publicationYear>
  <dates>
    <date dateType="Issued">2021-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/231512</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1002/ajmg.a.62261</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="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 &amp;gt; T, c.594_595delCTinsG, c.636_637insC, c.685 + 5G &amp;gt; A, c.1088G &amp;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.</description>
  </descriptions>
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