Transcriptomic profiles in dental pulp cells from one CCD patient with allelic RUNX2 deletion and one sex-age matched unaffected individual.

The goal is to investigate the downstream targets of RUNX2 signaling which are potentially involved in the disease process of Cleidocranial Dysplasia (CCD). RNA-seq was performned to compare the mRNA profiles in human dental pulp cells from one CCD patient with allelic RUNX2 deletion (CCD-011) and sex-age matched unaffected individual(Control). Â Of 25,643 genes analyzed, 11,039 genes had no detectable signal in both CCD and control samples tested leaving 14,604 genes that were evaluated for differential gene expression. Â In the detectable genes, 60 transcripts (4.1%) were found to be statistically significantly dysregulated with 63% upregulated and 27% downregulated (fold change = 2; q-value < 0.05). Â Overall design: mRNA profiles of CCD-011 dental pulp cells and sex-age matched control cells were generated by deep sequencing, in triplicate, using Illumina GAIIx.