Jamshid Motaei1, Arash Salmaninejad1,2, Ebrahim Jamali3, Imaneh Khorsand4, Mohammad Ahmadvand5, Sasan Shabani6, Farshid Karimi7, Mohammad Sadegh Nazari8, Golsa Ketabchi9, Fatemeh Naqipour9. 1. Department of Medical Genetics, Medical Genetics Research Center, Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 2. Halal Research Center of IRI, FDA, Tehran, Iran. 3. Department of Biology, Tonekabon Branch, Islamic Azad University, Tonekabon, Iran. 4. Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 5. Hematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran. 6. Department of Optometry, School of Para Medical Sciences, Mashhad University of Medical Sciences, Mashhad, Iran. 7. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. 8. Postgraduate Student, Department of Orthodontics, School of Dentistry, Mashhad University of Medical Science, Mashhad, Iran. 9. Postgraduate Student, Department of Oral and Maxillofacial Radiology, School of Dentistry, Mashhad University of Medical Science, Mashhad, Iran.
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.
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.