Please use this identifier to cite or link to this item: http://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
RMID: 0030005774
Appears in Collections:Paediatrics publications

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