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Title: Three-dimensional analysis of tooth dimensions in the MSX1-missense mutation
Authors: Créton, Marijn ×
van den Boogaard, Marie-José
Maal, Thomas
Verhamme, Luc
Fennis, Willem
Carels, Carine
Kuijpers-Jagtman, Anne Marie
Cune, Marco #
Issue Date: Jun-2013
Publisher: Springer
Series Title: Clinical oral investigations vol:17 issue:5 pages:1437-45
Abstract: 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.
URI: 
ISSN: 1432-6981
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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