Molecular Genetics of Cleidocranial Dysplasia Publisher Pubmed



Motaei J¹ ; Salmaninejad A^{1, 2} ; Jamali E³ ; Khorsand I⁴ ; Ahmadvand M⁵ ; Shabani S⁶ ; Karimi F⁷ ; Nazari MS⁸ ; Ketabchi G⁹ ; Naqipour F⁹ Show Affiliations
Source: Fetal and Pediatric Pathology Published:2021

Abstract

Background: Cleidocranial dysplasia (CCD) is a genetic disorder with an autosomal dominant inheritance pattern. CCD characterized by abnormal clavicles, patent sutures and fontenelles, supernumerary teeth and short stature. Approximately 60-70% of CCD patients have mutations in the RUNX2 gene. The RUNX2 gene is an essential transcription factor for chondrocyte maturation, osteoblast differentiation and bone formation. Runx2 regulates mesenchymal cell proliferation in sutures and suture closure by inducing the signaling pathways of the genes of Fgf, Pthlh, hedgehog and Wnt. Material and Methods: We summarized molecular genetics aspects of CCD. Result: Approximately 94% of CCD patients have dental anomalies, the most common of which are supernumerary tooth. Dental anomalies are not determined solely by gene mutations of RUNX2, but are also affected by modifier genes, environmental factors, epigenetic factors and copy number variations. Conclusion: a definite diagnosis of CCD should include the patient’s clinical history, symptoms and signs, as well as genetic analyses. © 2020 Taylor & Francis Group, LLC.