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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Nat Genet. 1994 Nov; 8(3):275-9.NGen

Abstract

Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the tyrosine kinase receptor superfamily, having a high affinity for peptides that signal the transduction pathways for mitogenesis, cellular differentiation and embryogenesis. We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described. In addition, in four of 12 Crouzon syndrome cases, we identified two new mutations and found two previously described mutations in the same region.

Authors+Show Affiliations

Jabs EW
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287-3914.
Li X
No affiliation info available
Scott AF
No affiliation info available
Meyers G
No affiliation info available
Chen W
No affiliation info available
Eccles M
No affiliation info available
Mao JI
No affiliation info available
Charnas LR
No affiliation info available
Jackson CE
No affiliation info available
Jaye M
No affiliation info available

MeSH

AllelesAmino Acid SequenceAnimalsChromosome MappingChromosomes, Human, Pair 10Consensus SequenceCraniofacial DysostosisCraniosynostosesDNA Mutational AnalysisFemaleFoot Deformities, CongenitalGenesHand Deformities, CongenitalHumansMaleMolecular Sequence DataMutationPedigreePhenotypeReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 2Receptors, Fibroblast Growth FactorSequence AlignmentSequence Homology, Amino AcidSpecies SpecificitySyndrome

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7874170

Citation

Jabs, E W., et al. "Jackson-Weiss and Crouzon Syndromes Are Allelic With Mutations in Fibroblast Growth Factor Receptor 2." Nature Genetics, vol. 8, no. 3, 1994, pp. 275-9.
Jabs EW, Li X, Scott AF, et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994;8(3):275-9.
Jabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., Mao, J. I., Charnas, L. R., Jackson, C. E., & Jaye, M. (1994). Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genetics, 8(3), 275-9.
Jabs EW, et al. Jackson-Weiss and Crouzon Syndromes Are Allelic With Mutations in Fibroblast Growth Factor Receptor 2. Nat Genet. 1994;8(3):275-9. PubMed PMID: 7874170.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. AU - Jabs,E W, AU - Li,X, AU - Scott,A F, AU - Meyers,G, AU - Chen,W, AU - Eccles,M, AU - Mao,J I, AU - Charnas,L R, AU - Jackson,C E, AU - Jaye,M, PY - 1994/11/1/pubmed PY - 1994/11/1/medline PY - 1994/11/1/entrez SP - 275 EP - 9 JF - Nature genetics JO - Nat Genet VL - 8 IS - 3 N2 - Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the tyrosine kinase receptor superfamily, having a high affinity for peptides that signal the transduction pathways for mitogenesis, cellular differentiation and embryogenesis. We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described. In addition, in four of 12 Crouzon syndrome cases, we identified two new mutations and found two previously described mutations in the same region. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/7874170/Jackson_Weiss_and_Crouzon_syndromes_are_allelic_with_mutations_in_fibroblast_growth_factor_receptor_2_ L2 - https://doi.org/10.1038/ng1194-275 DB - PRIME DP - Unbound Medicine ER -