Abstract: Abstract： Objective: The aim of our study is to explore the pathogenic genes or susceptibility genes for maxillary canine agenesis by whole exome sequencing (WES). Method: The study was performed on a Chinese tooth agenesis family which consisted of two maxillary canine agenesis patients and a healthy person. Collecting the peripheral blood of the families and genomic DNA was extracted. Then Whole exome sequencing was performed on the family. Likely pathogenic variants were filtered out by bioinformatic analysis. Then PCR-Sanger sequencing was performed in all of the family members for verification of the candidate variants. The functional of the candidate gene and the conservation of the mutated amino acid were predicted by bioinformatic analysis. Result: ITGAV (c.C2381G) was filtered out in the two maxillary canine agenesis patients but not in the healthy person. This missense mutation made Proline (Pro) change to Arginine (Arg). Then Sanger sequencing identified that the mutation was coseparation in this family. Bioinformatic analysis showed that the ITGAV expressed in the mouse and human tooth germ. Besides that the Proline in mutated site was highly conserved in different species. Conclusion: The study showed that ITGAV may be the pathogenic gene for maxillary canine agenesis.

Key words: Maxillary canine agenesis, whole exome sequencing, gene mutation