{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T15:50:42Z","timestamp":1783698642461,"version":"3.55.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,10,24]],"date-time":"2011-10-24T00:00:00Z","timestamp":1319414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:p><jats:italic>Oral Diseases<\/jats:italic> (2012) <jats:bold>18<\/jats:bold>, 184\u2013190<\/jats:p><jats:p><jats:bold>Background:\u2002<\/jats:bold> Cleidocranial dysplasia (CCD) is a dominantly inherited autosomal disease characterized by typical bone defects including short stature, persistently open or delayed closure of the cranial sutures, and hypoplastic or aplastic clavicles. Oral features are frequent and include supernumerary teeth, delayed eruption or impaction of the permanent teeth, and malocclusion. Heterozygous mutations in <jats:italic>RUNX2<\/jats:italic> gene, which encodes a transcription factor essential for osteoblast differentiation, were identified as the etiological cause of CCD.<\/jats:p><jats:p><jats:bold>Objective and Methods:\u2002<\/jats:bold> Herein, we performed physical and radiographic examination and screening for <jats:italic>RUNX2<\/jats:italic> mutations in 11 patients from five families with CCD.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> All patients demonstrated the classical phenotypes related to CCD. Families whose affected members had several dental alterations such as multiple impacted and supernumerary teeth demonstrated heterozygous missense mutations (R190Q and R225Q) that impair the runt domain of RUNX2. On the other hand, CCD patients from families with low frequency of dental abnormalities showed no mutation in <jats:italic>RUNX2<\/jats:italic> or mutation outside of the runt domain (Q292<jats:italic>fs<\/jats:italic>\u2192X299).<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> The current findings suggest a correlation between dental alterations and mutations in the runt domain of <jats:italic>RUNX2<\/jats:italic> in CCD patients. Further clinical and genetic studies are needed to clarify the relationship between phenotypes and genotypes in CCD and to identify other factors that might influence the clinical features of this uncommon disease.<\/jats:p>","DOI":"10.1111\/j.1601-0825.2011.01862.x","type":"journal-article","created":{"date-parts":[[2011,9,29]],"date-time":"2011-09-29T16:02:24Z","timestamp":1317312144000},"page":"184-190","source":"Crossref","is-referenced-by-count":46,"title":["Cleidocranial dysplasia: oral features and genetic analysis of 11 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