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A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment.
Piranit Kantaputra1,2, Niramol Leelaadisorn3, Athiwat Hatsadaloi4
1Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Diagnostics (Basel, Switzerland)
|March 11, 2023
Summary
A CACNA1S gene variant causes abnormal tooth development, leading to extra cusps and altered root structures. This genetic mutation disrupts dental epithelial folding, impacting tooth crown and root formation.
Area of Science:
- Genetics
- Developmental Biology
- Oral Biology
Background:
- Enamel knots and Hertwig epithelial root sheath (HERS) are crucial for tooth crown and root development.
- Investigating the genetic basis of unique dental anomalies including supernumerary cusps and altered root morphology.
Observation:
- Seven patients presented with distinct dental abnormalities.
- Genetic sequencing identified a heterozygous variant (c. 865A>G; p.Ile289Val) in the CACNA1S gene in all affected individuals.
- Immunohistochemistry revealed high Cacna1s expression in the secondary enamel knot during mouse tooth development.
Findings:
- The identified CACNA1S variant was absent in unaffected family members and controls.
- This variant is associated with impaired dental epithelial folding, manifesting as excessive folding in molars and reduced folding in premolars.
- Delayed invagination of HERS was observed, leading to single-rooted molars or taurodontism.
Implications:
- The CACNA1S variant may disrupt calcium influx, thereby affecting dental epithelial folding.
- Abnormal tooth crown and root morphology result from impaired epithelial folding.
- This study highlights CACNA1S as a potential key gene in regulating tooth development and morphology.
Keywords:
calcium homeostasiscalcium influxenamel knotroot maldevelopmentsingle-rooted molarssupernumerary cuspstaurodontismterotogenic effectMore Related Videos
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