The Etiology of Apert Syndrome: Premature ossification and fusion of the sutures between the developing flat bones of the skull; osseous fusion of digits and phalangeal joints and soft-tissue syndactyly in hands and feet; as well as central nervous system malformations and mental retardation. Click the image at right for some examples from Holten et al., 1997.

The Cause of Apert Syndrome: Apert syndrome is caused by ectopic autocrine activation of FGFR2 within mesenchymal and possibly epithelial tissues. Missense substitutions allow mesenchymal splice forms of FGFR2 to be activated by mesenchymally expressed ligands. Click on the image at left for more information.

Molecular Defects of Apert Syndrome: in the thumbnail image at right – missense substitutions in the linker between Ig domains II and III of FGFR2; Alu-element insertions in an intron of Fgfr2. Click on the thumbnail image for the entire graphic and explanatory caption.

FGF7 activates FGFR2c/S252W: All of the Apert Syndrome images and information featured on this web page are related to the recent publication of Yu, K., Herr, A. B., Waksman, G. and Ornitz, D. M. (2000). Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc. Natl. Acad. Sci. USA 97: 14536-14541. Please click the image at left for a full-scale version of the graph.