Apert's syndrome correlates with low fibroblast growth factor receptor activity in stenosed cranial sutures

The Journal of Craniofacial Surgery
S Bresnick, S Schendel

Abstract

Recent genetic studies have shown that Apert's syndrome results from mutations of the fibroblast growth factor (FGF) receptor 2 gene. We were interested in investigating the expression of FGF receptor 2 at the tissue level in children with Apert's syndrome. We studied FGF receptor activity in cranial sutures of children with Apert's syndrome and nonsyndromic, isolated craniosynostosis. Fourteen children between the ages of 6 months and 12 months were studied. Five of these children had Apert's syndrome with coronal suture stenosis. Nine children had an isolated, nonsyndromic coronal stenosis. Stenosed and nonstenosed cranial sutures were removed at the time of cranioplasty, fixed, decalcified, and paraffinized. Immunohistochemistry was performed with labeled, specific anti-FGR receptor 2 antibodies. We found lower levels of FGF receptor 2 staining in both stenosed and unstenosed sutures of children with Apert's syndrome compared with those from children with a nonsyndromic suture stenosis. Furthermore, fused sutures from children with Apert's syndrome demonstrated lower levels of FGF receptor 2 staining than unfused sutures from the same sample. The findings suggest that Apert's syndrome correlates with low FGF receptor 2 activ...Continue Reading

Citations

Aug 7, 2002·Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research·Maria BodoPaolo Carinci
Mar 6, 1999·Molecular Genetics and Metabolism·P Mora-Garcia, K M Sakamoto
Dec 23, 2008·The Journal of Craniofacial Surgery·Bryan C McIntoshJohn A Persing
Sep 28, 1999·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·B J Mehrara, M T Longaker

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