Abnormalities in cartilage and bone development in the Apert syndrome FGFR2+/S252W mouse

Yingli Wang, Ran Xiao, Fan Yang, Baktiar O. Karim, Anthony J. Iacovelli, Juanliang Cai, Charles P. Lerner, Joan T. Ricthsmeier, Jen M. Leszl, Cheryl A. Hill, Kai Yu, David M. Ornitz, Jennifer Elisseff, David L. Huso, Ethylin Wang Jabs

Research output: Contribution to journalArticlepeer-review

138 Scopus citations


Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. Two-thirds of affected individuals have a S252W mutation in fibroblast growth factor receptor 2 (FGFR2). To study the pathogenesis of this condition, we generated a knock-in mouse model with this mutation. The Fgfr2+/S252W mutant mice have abnormalities of the skeleton, as well as of other organs including the brain, thymus, lungs, heart and intestines. In the mutant neurocranium, we found a midline sutural defect and craniosynostosis with abnormal osteoblastic proliferation and differentiation. We noted ectopic cartilage at the midline sagittal suture, and cartilage abnormalities in the basicranium, nasal turbinates and trachea. In addition, from the mutant long bones, in vitro cell cultures grown in osteogenic medium revealed chondrocytes, which were absent in the controls. Our results suggest that altered cartilage and bone development play a significant role in the pathogenesis of the Apert syndrome phenotype.

Original languageEnglish (US)
Pages (from-to)3537-3548
Number of pages12
Issue number15
StatePublished - Aug 2005


  • Apert syndrome
  • Bone mesenchyme
  • Craniosynostosis
  • Fibroblast growth factor receptor 2
  • Mouse cartilage
  • Neural crest
  • Skull
  • Suture

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology


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