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Dissecting the Genetic Contribution of Tooth Agenesis.
Antonio Fallea1, Mirella Vinci1, Simona L'Episcopo1
1Oasi Research Institute-IRCCS, 94018 Troina, Italy.
International Journal of Molecular Sciences
|November 13, 2025
Summary
Tooth agenesis (TA), the congenital absence of teeth, is linked to key genes like MSX1, EDA, and PAX9. Genetic and chromosomal abnormalities significantly contribute to this common dental defect.
Area of Science:
- Genetics
- Developmental Biology
- Oral Health
Background:
- Tooth agenesis (TA) is the most common defect in human dental morphogenesis.
- TA can be isolated (non-syndromic) or part of syndromic conditions.
Purpose of the Study:
- To provide a comprehensive update on the genetic landscape of tooth agenesis.
- To synthesize current evidence on genes, variants, phenotypes, and pathways involved in TA.
Main Methods:
- Reviewed 73 manuscripts focusing on TA genetics.
- Analyzed data from curated databases: HPO, OMIM, ClinVar, and MalaCards.
Main Results:
- MSX1, EDA, and PAX9 are frequently implicated genes in TA.
- Chromosomal abnormalities (e.g., Down syndrome) and structural variations also contribute to TA.
- Key pathways include TNF receptor binding (EDA, EDAR) and mTOR signaling (AXIN2, WNT10A).
Conclusions:
- Genetic factors, including specific genes and broader chromosomal issues, are central to TA etiology.
- Understanding these genetic mechanisms and pathways is crucial for diagnostic and therapeutic advancements in TA.
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