Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families

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dc.authoridAltunoglu, Umut/0000-0002-3172-5368
dc.authoridToksoy, Guven/0000-0002-8103-9980
dc.authoridKayserili, Hulya/0000-0003-0376-499X
dc.authoridUyguner, Zehra Oya/0000-0002-2035-4338
dc.authoridGuven, Yeliz/0000-0002-4637-6025
dc.contributor.authorBir, Firdevs Dincsoy
dc.contributor.authorDinckan, Nuriye
dc.contributor.authorGuven, Yeliz
dc.contributor.authorBas, Firdevs
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorKuvvetli, Senem S.
dc.contributor.authorPoyrazoglu, Sukran
dc.date.accessioned2025-01-27T20:16:51Z
dc.date.available2025-01-27T20:16:51Z
dc.date.issued2017
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractCleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del). (C) 2016 Elsevier Masson SAS. All rights reserved.
dc.description.sponsorshipScientific and Technological Research Institution of Turkey, TUBITAK-ERA NET (CRANIRARE-2) [SBAG-112S398]
dc.description.sponsorshipWe sincerely thank the patients and their families for their contribution to this study, which was supported by the Scientific and Technological Research Institution of Turkey, TUBITAK-ERA NET (CRANIRARE-2, grant number: SBAG-112S398).
dc.identifier.doi10.1016/j.ejmg.2016.12.007
dc.identifier.endpage168
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.issue3
dc.identifier.pmid28027977
dc.identifier.scopus2-s2.0-85008319395
dc.identifier.scopusqualityQ3
dc.identifier.startpage163
dc.identifier.urihttps://doi.org/10.1016/j.ejmg.2016.12.007
dc.identifier.urihttps://hdl.handle.net/20.500.12428/21412
dc.identifier.volume60
dc.identifier.wosWOS:000398068600004
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier Science Bv
dc.relation.ispartofEuropean Journal of Medical Genetics
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectCleidocranial dysplasia
dc.subjectDental abnormalities
dc.subjectOsteoporosis
dc.subjectRUNX2
dc.subjectUnderdeveloped clavicles
dc.titleCleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families
dc.typeArticle

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