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

Area of Science:

• Genetics
• Developmental Biology
• Oral Health

Background:

• Tooth agenesis (TA) is a common human developmental anomaly.
• TA in children and adolescents can lead to esthetic, physiological, and functional issues.
• WNT10A gene mutations are a primary genetic cause of TA.

Purpose of the Study:

• To comprehensively profile WNT10A gene mutations in Korean patients with non-syndromic TA.
• To investigate mutations across both exons and introns of WNT10A.
• To identify novel genetic alterations associated with TA.

Main Methods:

• Saliva samples were collected from Korean pediatric patients with non-syndromic TA.
• Tagmentation-based sequencing was employed for comprehensive gene analysis.
• All exonic and intronic bases of the WNT10A gene were analyzed for mutations.

Main Results:

• Several novel mutations in WNT10A were exclusively detected in patient samples.
• Specific mutations identified include 629C>G, 1100C>T (exon 1), 1977T>C (intron 1), 10256C>T, 10382G>A (exon 3), and 15953G>A (intron 4).
• Additional mutations were observed at high frequencies in the patient cohort.

Conclusions:

• The identified WNT10A mutations differ from previously reported findings.
• These results enhance the understanding of WNT10A mutation pathogenicity in Korean TA patients.
• The study supports future diagnostic and therapeutic strategies for tooth agenesis.