Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.

An identical amino acid substitution in fibroblast growth factor receptors (FGFR) 1, 2 and 3 occurs in patients with different craniosynostosis syndromes. We tested 113 patients with various craniosynostosis syndromes for the analogous Pro246Arg mutation in FGFR4 by a PCR-restriction enzyme assay. None of the patients displayed this change nor other mutations in the conserved linker region, as test by SSCP analysis. Mutations in this domain of FGFR4 are unlikely to contribute significantly to craniosynostosis in humans.