Related Experiment Video
Updated: May 19, 2026
Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
Published on: January 17, 2025
Three-dimensional analysis of tooth dimensions in the MSX1-missense mutation
Marijn Créton1, Marie-José van den Boogaard, Thomas Maal
1Department of Oral and Maxillofacial Surgery, Prosthodontics and Special Dental Care, University Medical Centre Utrecht, Utrecht, The Netherlands. mcreton@umcutrecht.nl
Objectives:
A novel, 3D technique to measure the differences in tooth crown morphology between the MSX1 cases and non-affected controls was designed to get a better understanding of dental phenotype-genotype associations.
Materials And Methods:
Eight Dutch subjects from a single family with tooth agenesis, all with an established nonsense mutation c.332 C > A, p. Ser 111 Stop in exon 1 of MSX1, were compared with unaffected controls regarding several aspects of tooth crown morphology of incisor and molar teeth. A novel method of quantitative three-dimensional analysis was used to detect differences.
Results:
Statistically significant shape differences were observed for the maxillary incisor in the MSX1 family compared with the controls on the following parameters: surface area, buccolingual dimension, squareness, and crown volume (P ≤ 0.002). Molar crown shape was unaffected.
Conclusions:
A better understanding of dental phenotype-genotype associations may contribute to earlier diagnosis of some multiple-anomaly congenital syndromes involving dental anomalies.
Clinical Relevance:
A "shape database" that includes associated gene mutations resulting from developmental syndromes may facilitate the genetic identification of hypodontia cases.
