IADR Abstract Archives
Craniocleidal Dysplasia: Novel RUNX2 Mutations and Metabolic Analysis
Objectives: We aimed to sequence the RUNX2 gene in members of a CCD (craniocleidal dysplasia) family, to perform a LC-MS/MS analysis of metabolites and to explore their relationship.
Methods: Clinical and radiological data were collected from the recruited CCD family. Genomic DNA was extracted from the peripheral blood of the family, followed by the RUNX2 gene sequence, prediction of the protein structures of wild-type and mutant RUNX2, and the LC-MS/MS analysis of metabolites. QRT-PCR was used to measure the mRNA expression of RUNX2 target genes in the CCD patients and controls.
Results: A novel mutation and thirty metabolites belonging to 13 metabolic pathways were significantly changed in CCD patients compared to the asymptomatic in the family. The QRT- PCR analysis showed no statistical difference in the mRNA expression levels of target genes between the CCD patients and the controls (P＞0.05).
Conclusions: These findings show a novel mutation in the RUNX2 gene and metabolic changes in CCD. However, a further study will be carried on demonstrating the mechanism of potential RUNX2 target genes affecting metabolism.
Methods: Clinical and radiological data were collected from the recruited CCD family. Genomic DNA was extracted from the peripheral blood of the family, followed by the RUNX2 gene sequence, prediction of the protein structures of wild-type and mutant RUNX2, and the LC-MS/MS analysis of metabolites. QRT-PCR was used to measure the mRNA expression of RUNX2 target genes in the CCD patients and controls.
Results: A novel mutation and thirty metabolites belonging to 13 metabolic pathways were significantly changed in CCD patients compared to the asymptomatic in the family. The QRT- PCR analysis showed no statistical difference in the mRNA expression levels of target genes between the CCD patients and the controls (P＞0.05).
Conclusions: These findings show a novel mutation in the RUNX2 gene and metabolic changes in CCD. However, a further study will be carried on demonstrating the mechanism of potential RUNX2 target genes affecting metabolism.