A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was 
recently found in patients with non-syndromic craniosynostosis. We studied 18 
Taiwan Chinese patients with various types of craniosynostosis to evaluate if 
this mutation is also prevalent in the Chinese population. Genomic DNA was 
analysed by polymerase chain reaction based restriction analysis and direct 
sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 
probands were heterozygous for the Pro250Arg mutation. Only those patients with 
coronal synostosis carried this mutation.
CONCLUSION: Our findings suggest that all patients with coronal synostosis 
should be examined for this unique mutation.