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

Citations Over TimeTop 10% of 2005 papers

Abstract

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.

Related Papers

• → Two patients with Apert syndrome with different mutations: the importance of early diagnosis(2018)5 cited
• → Apert Syndrome in a Newborn Infant Without Craniosynostosis(2012)10 cited
• → Apert syndrome without craniosynostosis(2019)4 cited
• → Apert Syndrome (Acrocephalosyndactyly): A Rare Syndromic Craniosynostosis(2009)2 cited
• → Apert’s Syndrome: rare variant of a common anomaly (Craniosynostosis)(2016)1 cited