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Fibroblast growth factor(FGF) play a critical role in bone growth and development, affecting both chondrogenesis and osteogenesis. The authors believe, many craniosynostosis disorders to be linked with activating mutations in the fibroblast growth factor receptors (FGFRs). In recent studies, detected mutations of the FGFR gene has been reported in some syndromic craniosynostosis patients. So far sequence analysis of FGFR in syndromic craniosynostosis has been reported in many Caucasian patients. But Asian patients, especially in Koreans, only several cases were reported. The authors performed a prospective study, evaluating molecular diagnosis of FGFR 1, 2 and 3 in six Korean patients with craniosynostosis(four with isolated craniosynostosis and two with craniosynostosis syndrome) and four normal child as a control group, by polymerase chain reaction(PCR) followed by direct sequencing methods. The results did not demonstrate, any mutation in normal child but mutations in all six patients with craniosynostosis were seen. Three of four patients with isolated craniosynostosis carried mutation in exon 5 of FGFR 1 and exon 10 of FGFR 3 and two patients with craniofacial synostosis syndrome in exon 7, 10 of FGFR 3. Mutation for the same amino acid residue on FGFRs was not found. But two patients with isolated craniosynostosis and one patient with craniofacial synostosis syndrome had the same mutation pattern in exon 10 of FGFR 3 (Met363Val). Then more investigative attempts are needed to correlate a craniosynostosis and mutation in FGFRs with a large sample of patients.
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