SourceClinical Oral Investigations, 17, 5, (2013), pp. 1437-45
Article / Letter to editor
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Oral and Maxillofacial Surgery
Oral Function and Prosthetic Dentistry
Clinical Oral Investigations
SubjectNCEBP 2: Evaluation of complex medical interventions; NCEBP 2: Evaluation of complex medical interventions ONCOL 3: Translational research; NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
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.
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- Academic publications 
- Faculty of Medical Sciences 
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