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https://hdl.handle.net/2440/6920
Type: | Journal article |
Title: | A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome |
Author: | Muenke, M. Gripp, K. McDonald-McGinn, D. Gaudenz, K. Whitaker, L. Bartlett, S. Markowitz, R. Robin, N. Nwokoro, N. Mulvihill, J. Losken, H. Mulliken, J. Guttmacher, A. Wilroy, R. Clarke, L. Hollway, G. Ades, L. Haan, E. Mulley, J. Cohen, M. et al. |
Citation: | American Journal of Human Genetics, 1997; 60(3):555-564 |
Publisher: | UNIV CHICAGO PRESS |
Issue Date: | 1997 |
ISSN: | 0002-9297 1537-6605 |
Statement of Responsibility: | M. Muenke, K. W. Gripp, D. M. McDonald-McGinn, K. Gaudenz, L. A. Whitaker, S. P. Bartlett, R. I. Markowitz, N. H. Robin, N. Nwokoro, J. J. Mulvihill, H. W. Losken, J. B. Mulliken, A. E. Guttmacher, R. S. Wilroy, L. A. Clarke, G. Hollway, L. C. Adès, E. A. Haan, J. C. Mulley, M. M. Cohen, G. A. Bellus, C. A. Francomano, D. M. Moloney, S. A. Wall, A. O. M. Wilkie, E. H. Zackai |
Abstract: | The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis. |
Keywords: | Chromosomes, Human, Pair 4 Humans Craniosynostoses Foot Deformities, Congenital Hand Deformities, Congenital Syndrome Receptors, Fibroblast Growth Factor Radiography Pedigree Point Mutation Adult Child Female Male Receptor, Fibroblast Growth Factor, Type 3 Protein-Tyrosine Kinases |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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