Nature Genetics
9, 173 - 176 (1995)
doi:10.1038/ng0295-173
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypesPaul Rutland1, Louise J. Pulleyn1, William Reardon1, Michael Baraitser1, Richard Hayward2, Barry Jones3, Sue Malcolm1, Robin M. Winter1, Michael Oldridge4, Sarah F. Slaney4, 5, 6, Michael D. Poole6
& Andrew O.M. Wilkie4, 5, 6
1Mothercare Unit of Clinical Genetics and Fetal Medicine and Molecular Genetics Unit, Institute of Child Health, 30 Guilford St., London WCIN 1EH, UK
2Dept of Neurosurgery, Gt. Ormond St Hospital for Children, London, U.K.
3Craniofacial Unit, Gt. Ormond St. Hospital For Children, London, UK
4Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
5Dept. of Medical Genetics, Churchill Hospital Oxford, UK
6Oxford Craniofacial Unit, Radcliffe Infirmary, Oxford, UK Correspondence should be addressed to W.R. 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 Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation.
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