Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome |
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| Authors: | Laura R. Cornejo-Roldan Erich Roessler M. Muenke |
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| Affiliation: | (1) Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10, 10C101, Bethesda, Maryland, 20892-1852, USA e-mail: mmuenke@nhgri.nih.gov, Tel.: +301-402-8167, Fax: +301-402-496-7157, US;(2) Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Md., USA, US;(3) The Children’s Hospital of Philadelphia and Departments of Pediatrics, Genetics, and Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA, US |
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| Abstract: | ![]()
Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing). We have identified a total of 18 different mutations among 40 patients; eight of these mutations have not been previously described. The mutational spectrum displays a non-random character with the frequent involvement of cysteine codons. Received: 6 January 1999 / Accepted: 10 March 1999 |
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