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

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.

Pubmed ID: 15975938


  • Wang Y
  • Xiao R
  • Yang F
  • Karim BO
  • Iacovelli AJ
  • Cai J
  • Lerner CP
  • Richtsmeier JT
  • Leszl JM
  • Hill CA
  • Yu K
  • Ornitz DM
  • Elisseeff J
  • Huso DL
  • Jabs EW


Development (Cambridge, England)

Publication Data

August 14, 2005

Associated Grants

  • Agency: NIDCR NIH HHS, Id: DE11441
  • Agency: NIDCR NIH HHS, Id: DE13078
  • Agency: NIDCR NIH HHS, Id: F33DE/HD05706
  • Agency: NICHD NIH HHS, Id: HD24605
  • Agency: NICHD NIH HHS, Id: HD38384
  • Agency: NICHD NIH HHS, Id: HD39952
  • Agency: NCRR NIH HHS, Id: RR00171

Mesh Terms

  • Acrocephalosyndactylia
  • Amino Acid Substitution
  • Animals
  • Bone Development
  • Bone and Bones
  • Cartilage
  • Disease Models, Animal
  • Exons
  • Humans
  • Mice
  • Mice, Transgenic
  • Mutagenesis, Site-Directed
  • Polymorphism, Single Nucleotide
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor