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Genomic DNA was extracted from peripheral blood mononuclear cells collected from family members of a Chinese patient with CCD. An analysis of their RUNX Family Transcription Factor 2 (<jats:italic>RUNX2<\/jats:italic>) gene sequences was performed by PCR amplification and Sanger sequencing. The function of the mutant <jats:italic>RUNX2<\/jats:italic> was studied by bioinformatics, real\u2010time PCR, western blotting, and subcellular localization analysis. Sanger sequencing identified a novel single\u2010base deletion (NM_001024630.4:c.132delG;NP_001019801.3: Val45Trpfs<jats:sup>*<\/jats:sup>99) in the <jats:italic>RUNX2<\/jats:italic> gene present in the Chinese patient with CCD. In vitro, functional studies showed altered protein localization and increased expression of mutant <jats:italic>RUNX2<\/jats:italic> mRNA and mutant Runt\u2010related transcription factor 2 (RUNX2). Luciferase reporter assay demonstrated that the novel <jats:italic>RUNX2<\/jats:italic> mutations significantly increased the transactivation activity of RUNX2 on the osteocalcin gene promoter. In conclusion, we identified a patient with sporadic CCD carrying a novel deletion\/frameshift mutation of the <jats:italic>RUNX2<\/jats:italic> gene and performed screening and functional analyses to determine the cause of the CCD phenotype. This study provides new insights into the pathogenesis of CCD.3<\/jats:p>","DOI":"10.1111\/eos.12910","type":"journal-article","created":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T15:49:48Z","timestamp":1672847388000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel single\u2010base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia"],"prefix":"10.1111","volume":"131","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8039-1627","authenticated-orcid":false,"given":"Yuhua","family":"Pan","sequence":"first","affiliation":[{"name":"Stomatological Hospital Southern Medical University  Guangzhou Guangdong China"},{"name":"Department of Medical Genetics School of Basic Medical Sciences Southern Medical University  Guangzhou Guangdong 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