Novel Gene Variants in Chinese Children with Non-Syndromic Tooth Agenesis: A Clinical and Genetic Analysis.

BACKGROUND

Tooth agenesis is the most frequently occurring genetic developmental anomaly in clinical dentistry. The gene, essential for tooth development, has been associated with non-syndromic tooth agenesis. This study aims to identify novel variants associated with this condition and to understand their impact on tooth development.

METHODS

This study involved the genetic analysis of two children presenting with non-syndromic tooth agenesis. Conservation analysis and 3D structural modeling were conducted to assess the pathogenicity of these variants. Additionally, a review of 108 patients with known variants was performed to identify patterns of tooth agenesis.

RESULTS

We discovered two novel variants, c.823 T>G and c.890 A>G, located in the second exon of the gene. The identified variants, c.823 T>G and c.890 A>G, were predicted to be pathogenic. Conservation analysis showed that the impacted amino acids are highly conserved across species, and 3D structural analysis indicated potential disruptions to protein function. Among the 108 patients reviewed, a consistent pattern of tooth agenesis was observed, with the most frequently missing teeth being the maxillary second premolars, the mandibular second premolars, and the maxillary first premolars.

CONCLUSIONS

This research broadens the known range of gene variants and deepens our comprehension of the genetic foundations of non-syndromic tooth agenesis. The findings provide valuable insights for genetic counseling and future research into tooth development, emphasizing the importance of in dental anomalies.