Molecular Genetics of Cleidocranial Dysplasia.
Jamshid MotaeiArash SalmaninejadEbrahim JamaliImaneh KhorsandMohammad AhmadvandSasan ShabaniFarshid KarimiMohammad Sadegh NazariGolsa KetabchiFatemeh NaqipourPublished in: Fetal and pediatric pathology (2020)
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.
Keyphrases
- copy number
- genome wide
- transcription factor
- mitochondrial dna
- end stage renal disease
- cell proliferation
- genome wide identification
- dna methylation
- ejection fraction
- chronic kidney disease
- newly diagnosed
- stem cells
- signaling pathway
- prognostic factors
- peritoneal dialysis
- oxidative stress
- single molecule
- gene expression
- epithelial mesenchymal transition
- case report
- depressive symptoms
- dna binding
- patient reported
- cell cycle
- sleep quality