Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.

We examined the gene mutations of fibroblast growth factor receptor 2 (FGFR2) in Japanese syndromic craniosynostotic patients. Subjects included 1 patient with Apert's syndrome, 1 patient with Crouzon's syndrome, and 3 patients with Pfeiffer's syndrome, as well as two control patients. The genomic deoxyribonucleic acid of each patient was extracted, and the mutation sites of the FGFR2 gene were amplified and sequenced. One patient with Apert's syndrome showed a FGFR2 mutation of S252W (TCG-->TGG), 1 patient with Crouzon's syndrome had a mutation of C342W (TGC-->TGG), and the 3 patients with Pfeiffer's syndrome had mutations of T341P (ACG-->CCG), C342S (TGC-->TCC), and D321A (GAC-->GCC). The role of FGF families and the effect of FGFR2 mutations on craniofacial morphogenesis are discussed.