Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing
Barbara Biedziak1, Ewa Firlej1, Justyna Dąbrowska2
1Department of Orthodontics and Craniofacial Anomalies, Poznan University of Medical Sciences, 60-812 Poznan, Poland.
Journal of Clinical Medicine
|October 27, 2022
Summary
Genetic analysis identified new gene variants linked to non-syndromic tooth agenesis (ns-TA), a common dental anomaly. Findings suggest ns-TA may result from multiple gene variants, highlighting the importance of genetic factors.
Area of Science:
- Dentistry
- Genetics
- Human Biology
Background:
- Non-syndromic tooth agenesis (ns-TA) is a frequent congenital dental anomaly.
- Genetic factors are crucial in the etiology of ns-TA, leading to hypodontia or oligodontia.
Purpose of the Study:
- To identify novel pathogenic variants associated with ns-TA.
- To investigate the genetic underpinnings of hypodontia and oligodontia in a Polish cohort.
Main Methods:
- Targeted next-generation sequencing of 423 candidate genes.
- Analysis of 65 ns-TA patients and 127 healthy controls from a genetically homogenous Polish population.
Main Results:
- Pathogenic/likely pathogenic variants were found in 56.92% of ns-TA patients.
- Eight novel gene variants (CHD7, CREBBP, EVC, LEF1, ROR2, TBX22, TP63) implicated in ns-TA were identified.
- Existing ns-TA candidate genes (AXIN2, EDA, EDAR, IRF6, LAMA3, LRP6, MSX1, PAX9, WNT10A) were supported.
Conclusions:
- The study identified potential novel genetic contributors to ns-TA.
- Results suggest ns-TA may be an oligogenic condition, influenced by cumulative rare variants in multiple genes.
- Further research is needed to confirm the role of identified single variants in ns-TA etiology.
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