Fracture healing of the mandible is impaired in a Fgfr3N534K/+ mouse model of hypochondroplasia

Anne Morice, Loisay Lea, Laurence Legeai Mallet
2021 Bone Reports  
Results: We discovered a novel type of SBD in five patients from four independent families, which is characterized by hyperostosis of the calvaria and the skull base, mild platyspondyly, wide pubis and ischia, broadening of the femoral neck, and mild shortening and diaphyseal broadening of the short tubular bones. The disorder is caused by biallelic loss-of-function variants in TMEM53, which encodes nuclear envelope transmembrane (NET) protein 53 (TMEM53, also known as NET4). The Tmem53 -/mice
more » ... The Tmem53 -/mice generated in this study recapitulated the patients' skeletal phenotype. Conclusion(s): Our results establish a novel SBD entity in human and the corresponding disease model in mice.
doi:10.1016/j.bonr.2021.100769 fatcat:vrp5jics3vbbxdi4yclh3nbffq