Cephalometric assessment of craniofacial dysmorphologies in relation with Msx2 mutations in mouse. (6th January 2014)

• Record Type: Journal Article
• Authors: Simon, Y.; Marchadier, A.; Riviere, M. K.; Vandamme, K.; Koenig, F.; Lezot, F.; Trouve, A.; Benhamou, C. L.; Saffar, J. L.; Berdal, A.; Nefussi, J. R.
• Is Part Of: Orthodontics and craniofacial research. Volume 17:Number 2(2014:May)
• Page Start: 92
• Page End: 105
• Publication Date: 2014-01-06
• Subjects: Skull -- Growth -- Periodicals; Facial bones -- Growth -- Periodicals; Orthodontics -- Periodicals; Orthodontics, Corrective -- Periodicals; Orthodontic appliances -- Periodicals; 617.51
• DOI: 10.1111/ocr.12035
• Languages: English
• ISSNs: 1601-6335

Abstract

<abstract abstract-type="main" id="ocr12035-abs-0001"> <title>Structured Abstract</title> <sec id="ocr12035-sec-0001" sec-type="section"> <title>Objectives</title> <p>To determine the role of Msx2 in craniofacial morphology and growth, we used a mouse model and performed a quantitative morphological characterization of the <italic>Msx2</italic> <sup>−/−</sup> and the <italic>Msx2</italic> <sup>+/−</sup> phenotype using a 2D cephalometric analysis applied on micrographs.</p> </sec> <sec id="ocr12035-sec-0002" sec-type="section"> <title>Materials and Methods</title> <p>Forty‐four three‐and‐a‐half‐month‐old female CD1 mice were divided into the following three groups: <italic>Msx2</italic> <sup>+/+</sup> (n = 16), <italic>Msx2</italic> <sup>+/−</sup> (n = 16), and <italic>Msx2</italic> <sup>−/−</sup> (n = 12). Profile radiographs were scanned. Modified cephalometric analysis was performed to compare the three groups.</p> </sec> <sec id="ocr12035-sec-0003" sec-type="section"> <title>Results</title> <p>Compared with the wild‐type mice, the <italic>Msx2</italic> <sup>−/−</sup> mutant mice presented an overall craniofacial size decrease and modifications of the shape of the different parts of the craniofacial skeleton, namely the neurocranium, the viscerocranium, the mandible, and the teeth. In particular, dysmorphologies were seen in the cochlear apparatus and the teeth (taurodontism, reduced incisor curvature). Finally contrary to previous published results, we were able to record a specific phenotype of the <italic>Msx2</italic> <sup>+/−</sup> mice with this methodology. This <italic>Msx2</italic> <sup>+/−</sup> mouse phenotype was not intermediate between the <italic>Msx2</italic> <sup>−/−</sup> and the wild‐type animals.</p> </sec> <sec id="ocr12035-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Msx2 plays an important role in craniofacial morphogenesis and growth because almost all craniofacial structures were affected in the <italic>Msx2</italic><sup>−<italic>/</italic>−</sup> mice including both intramembranous and endochondral bones, the cochlear apparatus, and the teeth. In addition, <italic>Msx2</italic> haploinsufficiency involves a specific phenotype with subtle craniofacial structures modifications compared with human mutations.</p> </sec> </abstract>