Craniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome

Sarah Lonsdale, Robin Yong, Alexander Khominsky, Suzanna Mihailidis, Grant Townsend, Sarbin Ranjitkar, Peter Anderson

Research output: Contribution to journalArticle

Abstract

Background: Saethre-Chotzen Syndrome (SCS) is an autosomal dominant syndrome that occurs due to a mutation or deletion of the Twist1 gene at chromosome 7p21. Our aim was to conduct a morphometric analysis of the craniofacial features in the mouse associated with a Twist1+/− mutation. Methods: Micro-computed imaging was conducted for the skulls of forty skeletally mature mice, equally distributed by sex (male and female) and two genotypes (Twist1+/− or murine model of SCS; and Twist1+/+ or wild-type). A morphometric analysis was carried out for eight parameters for the maxillary-zygomatico-temporal region, 10 parameters for the mandible and three parameters for teeth from three-dimensional reconstructions. Results: Compared with wild-type, the murine model of SCS showed these trends: (1) maxillary-zygomatico-temporal region, significantly shorter length and width posteriorly (p < 0.05), (2) mandible, significantly reduced height and width (p < 0.05), and (3) teeth, significantly shorter height, shorter mesio-distal width but longer bucco-lingual width (p < 0.05). In the murine model of SCS, the key morphological variations included incomplete ossification of the temporal bone and zygomatic arch, twisting and/or incomplete ossification of the palatal process of the maxilla, premaxilla and the ventral nasal concha, as well as bifid coronoid processes. Conclusions: The skeletal and dental alterations in the height, length and width provide a foundation for large-scale phenomics studies, which will improve existing knowledge of the Twist1 signalling cascade. This is relevant given the predicted shift towards minimally invasive molecular medical treatment for craniosynostosis.

LanguageEnglish
Pages33-41
Number of pages9
JournalAnnals of Anatomy
Volume225
DOIs
Publication statusPublished - 1 Sep 2019

Keywords

  • Craniofacial phenomics
  • Craniosynostosis
  • Mandible
  • Maxilla
  • Tooth

ASJC Scopus subject areas

  • Anatomy
  • Developmental Biology

Cite this

Lonsdale, S., Yong, R., Khominsky, A., Mihailidis, S., Townsend, G., Ranjitkar, S., & Anderson, P. (2019). Craniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome. Annals of Anatomy, 225, 33-41. https://doi.org/10.1016/j.aanat.2019.05.011
Lonsdale, Sarah ; Yong, Robin ; Khominsky, Alexander ; Mihailidis, Suzanna ; Townsend, Grant ; Ranjitkar, Sarbin ; Anderson, Peter. / Craniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome. In: Annals of Anatomy. 2019 ; Vol. 225. pp. 33-41.
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Lonsdale, S, Yong, R, Khominsky, A, Mihailidis, S, Townsend, G, Ranjitkar, S & Anderson, P 2019, 'Craniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome', Annals of Anatomy, vol. 225, pp. 33-41. https://doi.org/10.1016/j.aanat.2019.05.011

Craniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome. / Lonsdale, Sarah; Yong, Robin; Khominsky, Alexander; Mihailidis, Suzanna; Townsend, Grant; Ranjitkar, Sarbin; Anderson, Peter.

In: Annals of Anatomy, Vol. 225, 01.09.2019, p. 33-41.

Research output: Contribution to journalArticle

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Lonsdale S, Yong R, Khominsky A, Mihailidis S, Townsend G, Ranjitkar S et al. Craniofacial abnormalities in a murine model of Saethre-Chotzen Syndrome. Annals of Anatomy. 2019 Sep 1;225:33-41. https://doi.org/10.1016/j.aanat.2019.05.011