Mutation detection in FGFR2 craniosynostosis syndromes |
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| Authors: | G. E. Hollway Graeme K. Suthers Eric A. Haan Elizabeth Thompson David J. David Jozef Gecz John C. Mulley |
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| Affiliation: | (1) Department of Cytogenetics and Molecular Genetics, Women’s and Children’s Hospital, North Adelaide, South Australia, 5006 Tel. + 618-204-6442; Fax + 618-204-7342, AU;(2) Department of Medical Genetics and Epidemiology, Women’s and Children’s Hospital, North Adelaide, South Australia, 5006, AU;(3) Australian Cranio-Facial Unit, Women’s and Children’s Hospital, North Adelaide, South Australia, 5006, AU;(4) Department of Paediatrics, University of Adelaide, Adelaide, Australia, AU;(5) Department of Genetics, University of Adelaide, Adelaide, Australia, AU;(6) Department of Genetics, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia, |
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| Abstract: | Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at –1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true. Received: 4 June 1996 / Revised: 3 September 1996 |
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