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).   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.  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).   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.