Ricerc@Sapienza

Anomalies affecting the canine tooth include agenesis or impaction and the aetiology is still largely undetermined, with both genetic and environmental factors assumed to contribute significantly to the phenotypic manifestations. Recently, multiple lines of evidence highlighted the role of a few specifc cell signaling pathways, e.g. the NF-kB and the WNT, as crucial mediators of tooth development and tooth agenesis and inclusion. This evidence has been recently confirmed by the applicant through the clinical and genetic study of an Italian family with several members with maxillary canine anomalies, including canine agenesis, either monolateral or bilateral, canine impaction and canine ectopic eruption, characterized by incomplete penetrance and variable expressivity. The use of whole exome sequencing (WES) approach to characterized molecular bases of this heterogeneous condition highlighted the role of WNT and EDA cell signaling pathways in tooth development.
The aim of this research project is to study molecular bases of maxillary canine anomalies, including agenesis and impaction, in sporadic and familiar cases through a detailed clinical characterization and a Next GenerationSequencing approach.