Dystrophic spinal deformities in a neurofibromatosis type 1 murine model

Steven D. Rhodes, Wei Zhang, Dalong Yang, Hao Yang, Shi Chen, Xiaohua Wu, Xiaohong Li, Xianlin Yang, Khalid S. Mohammad, Theresa A. Guise, Amanda L. Bergner, David A. Stevenson, Feng-Chun Yang

Research output: Contribution to journalArticle

4 Scopus citations


Despite the high prevalence and significant morbidity of spinal anomalies in neurofibromatosis type 1 (NF1), the pathogenesis of these defects remains largely unknown. Here, we present two murine models: Nf1flox/-;PeriCre and Nf1flox/-;Col.2.3Cre mice, which recapitulate spinal deformities seen in the human disease. Dynamic histomorphometry and microtomographic studies show recalcitrant bone remodeling and distorted bone microarchitecture within the vertebral spine of Nf1flox/-;PeriCre and Nf1flox/-;Col2.3Cre mice, with analogous histological features present in a human patient with dystrophic scoliosis. Intriguingly, 36-60% of Nf1flox/-;PeriCre and Nf1flox/-;Col2.3Cre mice exhibit segmental vertebral fusion anomalies with boney obliteration of the intervertebral disc (IVD). While analogous findings have not yet been reported in the NF1 patient population, we herein present two case reports of IVD defects and interarticular vertebral fusion in patients with NF1. Collectively, these data provide novel insights regarding the pathophysiology of dystrophic spinal anomalies in NF1, and provide impetus for future radiographic analyses of larger patient cohorts to determine whether IVD and vertebral fusion defects may have been previously overlooked or underreported in the NF1 patient population.

Original languageEnglish (US)
Article numbere0119093
JournalPLoS One
Issue number3
StatePublished - Mar 18 2015
Externally publishedYes


ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Rhodes, S. D., Zhang, W., Yang, D., Yang, H., Chen, S., Wu, X., Li, X., Yang, X., Mohammad, K. S., Guise, T. A., Bergner, A. L., Stevenson, D. A., & Yang, F-C. (2015). Dystrophic spinal deformities in a neurofibromatosis type 1 murine model. PLoS One, 10(3), [e0119093]. https://doi.org/10.1371/journal.pone.0119093