Mutation Analysis in Fibroblast Growth Factor Receptor 3 Gene in Korean Children with Simple Craniosynostosis

ABSTRACT

The C749G(Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. In this study, the blood of 9 Korean children with non-syndromic craniosynostosis were collected and mutation analyses were performed to screen whether this Pro250Arg mutation is also prevalent in Korean population. The genomic DNA samples were analysed by PCR amplification to amplify exon 7 and flanking intron sequence of FGFR3 (341 bp). Restriction digests were analysed by gel electrophoresis. There were no heterozygous for Pro250Arg mutation. No mutations in restriction enzyme digestion were confirmed by direct DNA sequencing. In this study, only 9 patients with simple craniosynostosis were subjected to mutation detection. Therefore, it is necessary to study a large number of patients in order to understand the proportion of non-syndromic craniosynostosis attributalbe to FGFR3 mutation. The epidemiologic study of this disease should be also combined in addition.