| A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. | |
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MedLine Citation:
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PMID: 9042914 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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 Wilkie |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of human genetics Volume: 60 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1997 Mar |
Date Detail:
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Created Date: 1997-03-18 Completed Date: 1997-03-18 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 555-64 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Pennsylvania, Philadelphia, USA. muenke@mail.med.upenn.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child Chromosomes, Human, Pair 4 Craniosynostoses / genetics* Female Foot Deformities, Congenital / genetics, radiography Hand Deformities, Congenital / genetics, radiography Humans Male Pedigree Point Mutation* Protein-Tyrosine Kinases* Receptor, Fibroblast Growth Factor, Type 3 Receptors, Fibroblast Growth Factor / genetics* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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R01HD29862/HD/NICHD NIH HHS; R29HD28732/HD/NICHD NIH HHS; //Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Fibroblast Growth Factor; EC 2.7.1.112/FGFR3 protein, human; EC 2.7.10.1/Protein-Tyrosine Kinases; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3 |
| Comments/Corrections | |
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