Primary Failure of Eruption (PFE), a rare anomaly of tooth eruption, has no known genetic and molecular basis. It commonly affects permanent posterior teeth that show no structural defects and are not impeded by supernumerary teeth or soft tissues. It is poorly characterized and remains one of the most difficult to diagnose and treat. Our current understanding of the biology of tooth eruption implicates the dental follicle, a loose connective tissue sac surrounding the tooth organ, in mediating the cascade of signaling events that are indispensable for this process. Coincident with this is the finding that a transcription factor, Runx2/Cbfa1, is dominantly expressed in the dental follicle and its derivatives during tooth eruption. Defects in CBFA1 result in cleidocranial dysplasia (CCD), which also has a failure in tooth eruption as a hallmark feature. Taken together, this suggests that PFE may represent a phenotypic variant of CCD. Objective: The aim of this study was to determine if a disruption of CBFA1 is responsible for PFE. Methods: Blood samples were collected from a unique population of individuals/families affected with PFE. Upon isolation of the genomic DNA, PCR-based mutational analysis of the coding regions of human CBFA1, followed by direct sequencing was performed. Results: Our analysis, thus far, has revealed the absence of mutations in CBFA1. Conclusion: Results of our mutation screen exclude CBFA1 as the etiologic factor for PFE and suggest that another gene is responsible for its pathogenesis. Supported by NIH/NIDCR Grant DE13368 (RDS), T35DE07252-09 (OJD), DE14237 (HK), and AAOF grant (RDS).

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