Subphenotypes in Non-Syndromic Orofacial Cleft Patients Based on the Tooth Agenesis Code (TAC)

Area of Science:

• Dentistry
• Genetics
• Developmental Biology

Background:

• Tooth agenesis, a common dental anomaly, presents diverse patterns.
• Understanding these patterns in non-syndromic orofacial cleft patients is crucial for etiological insights.

Purpose of the Study:

• To investigate tooth agenesis patterns using the Tooth Agenesis Coding (TAC) method in non-syndromic orofacial cleft patients.
• To determine associations between TAC patterns, sex, and cleft type.
• To examine the distribution and inter-quadrant associations of tooth agenesis.

Main Methods:

• Analysis of 183 non-syndromic orofacial cleft patient records.
• Assessment of tooth agenesis and TAC patterns.
• Application of logistic regression models to identify significant associations.

Main Results:

• The most frequent cleft type was cleft lip and palate (CLPL).
• Maxillary left lateral incisor was the most frequently missing tooth, strongly dependent on cleft type (p < 0.001).
• Cleft type significantly influenced TAC distribution (p = 0.001), but neither sex nor cleft type were associated with overall tooth agenesis.
• A strong association was found between tooth agenesis in different quadrants, suggesting a genetic link.

Conclusions:

• Thirty-one TAC subphenotypes were identified, with four prevalent patterns explaining 80.8% of variability.
• A strong association exists between TAC patterns and cleft type.
• Tooth agenesis in cleft patients is strongly influenced by cleft type, with a notable genetic component indicated by inter-quadrant associations.