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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

Nature Genetics volume 8, pages 275–279 (1994)Cite this article

A Correction to this article was published on 01 April 1995

Abstract

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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Authors and Affiliations

  1. Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins School of Medicine, 600 N. Wolfe Street, Baltimore, Maryland, 21287-3914, USA

    Ethylin Wang Jabs, Xiang Li, Alan F. Scott, Gregory Meyers & Wendy Chen

  2. Molecular Carcinogenesis Laboratory, Department of Biochemistry, Centre for Gene Research, University of Otago, Dunedin, New Zealand

    Michael Eccles

  3. Department of Human and Molecular Genetics, Collaborative Research, Genome Therapeutics Corp., 100 Beaver Street, Waltham, Massachusetts, 02154, USA

    Jen-i Mao

  4. Neurological Associates of Western Colorado, 2530 North 8th Street, Grand Junction, Colorado, 81501, USA

    Lawrence R. Charnas

  5. Department of Medicine, Clinical and Molecular Genetics, The Henry Ford Hospital, Detroit, Michigan, 48202, USA

    Charles E. Jackson

  6. Rhone-Poulenc Rorer Research, 500 Arcola Road, P.O. Box 1200, Collegeville, Pennsylvania, 19426-0107, USA

    Michael Jaye

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  1. Ethylin Wang Jabs
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  2. Xiang Li
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  4. Gregory Meyers
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  6. Michael Eccles
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  9. Charles E. Jackson
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Jabs, E., Li, X., Scott, A. et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 8, 275–279 (1994). https://doi.org/10.1038/ng1194-275

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  • DOI: https://doi.org/10.1038/ng1194-275

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