Nature Genetics
8, 275 - 279 (1994)
doi:10.1038/ng1194-275
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2Ethylin Wang Jabs1, 7, Xiang Li1, Alan F. Scott1, Gregory Meyers1, Wendy Chen1, Michael Eccles2, Jen-i Mao3, Lawrence R. Charnas4, Charles E. Jackson5
& Michael Jaye6
1Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins School of Medicine, 600 N. Wolfe Street, Baltimore, Maryland 21287-3914, USA
2Molecular Carcinogenesis Laboratory, Department of Biochemistry, Centre for Gene Research, University of Otago, Dunedin, New Zealand
3Department of Human and Molecular Genetics, Collaborative Research, Genome Therapeutics Corp., 100 Beaver Street, Waltham, Massachusetts 02154, USA
4Neurological Associates of Western Colorado, 2530 North 8th Street, Grand Junction, Colorado 81501, USA
5Department of Medicine, Clinical and Molecular Genetics, The Henry Ford Hospital, Detroit, Michigan 48202, USA
6Rhone-Poulenc Rorer Research, 500 Arcola Road, P.O. Box 1200, Collegeville, Pennsylvania 19426-0107, USA
7Correspondence should be addressed to E.W.J. Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the tyrosine kinase receptor superfamily, having a high affinity for peptides that signal the transduction pathways for mitogenesis, cellular differentiation and embryogenesis. We now report an FGFR2 mutation in the conserved region of the immunoglobulin Illc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described. In addition, in four of 12 Crouzon syndrome cases, we identified two new mutations and found two previously described mutations in the same region.
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