Exonic and Intronic WNT10A Variants Isolated from Korean Children with Non-Syndromic Tooth Agenesis.

Background/

Objectives

Tooth agenesis (TA) is a developmental anomaly prevalent in humans. It is particularly significant in children and adolescents because it is related to esthetic, physiological, and functional problems, including malocclusion, periodontal damage, and insufficient alveolar growth. WNT10A mutations have been identified as the main genetic alterations associated with tooth agenesis. Most previous studies have investigated WNT10A mutations in patients with tooth agenesis using single nucleotide polymorphism (SNP) arrays or exome sequencing. In this study, we conducted a comprehensive profiling of mutations within the exons and introns of WNT10A in Korean patients with non-syndromic tooth agenesis.

Methods

Saliva samples were collected from Korean children and adolescents with non-syndromic tooth agenesis. Tagmentation-based sequencing was conducted to acquire mutation information for all exonic and intronic bases of the WNT10A gene.

Results

Mutations were detected exclusively in the patient samples: 629C>G and 1100C>T in exon 1, 1977T>C in intron 1, 10256C>T and 10382G>A in exon 3, and 15953G>A in intron 4. Additional mutations were also observed at high ratios in the patient samples.

Conclusions

The mutations identified in this study differ from previous findings. These results may provide useful information for understanding the pathogenicity of WNT10A mutations in Korean patients with tooth agenesis and support future diagnostic and therapeutic approaches.