IDENTICAL MUTATIONS IN THE FGFR2 GENE CAUSE BOTH PFEIFFER AND CROUZONSYNDROME PHENOTYPES

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiff er syndrome, where craniosynostosis is associated with specific digita l abnormalities. We now report point mutations in FGFR2 in seven spora dic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome pat ients share two missense mutations, which have also been reported in C rouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed tru e within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observa tion.