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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Nat Genet. 1994 Nov; 8(3):269-74.NGen

Abstract

Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, was identified in all affected members of five unrelated PS families but not in any unaffected individuals. FGFR1 therefore becomes the third fibroblast growth factor receptor to be associated with an autosomal dominant skeletal disorder.

Authors+Show Affiliations

Muenke M
Children's Hospital of Philadelphia.
Schell U
No affiliation info available
Hehr A
No affiliation info available
Robin NH
No affiliation info available
Losken HW
No affiliation info available
Schinzel A
No affiliation info available
Pulleyn LJ
No affiliation info available
Rutland P
No affiliation info available
Reardon W
No affiliation info available
Malcolm S
No affiliation info available

MeSH

Abnormalities, MultipleAmino Acid SequenceBase SequenceChromosome MappingChromosomes, Human, Pair 8CraniosynostosesExonsFemaleGenesHumansLod ScoreMaleMolecular Sequence DataPedigreePoint MutationProtein Structure, TertiaryReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 1Receptors, Fibroblast Growth FactorSyndromeThumbToes

Pub Type(s)

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

Language

eng

PubMed ID

7874169

Citation

Muenke, M, et al. "A Common Mutation in the Fibroblast Growth Factor Receptor 1 Gene in Pfeiffer Syndrome." Nature Genetics, vol. 8, no. 3, 1994, pp. 269-74.
Muenke M, Schell U, Hehr A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet. 1994;8(3):269-74.
Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., & Malcolm, S. (1994). A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genetics, 8(3), 269-74.
Muenke M, et al. A Common Mutation in the Fibroblast Growth Factor Receptor 1 Gene in Pfeiffer Syndrome. Nat Genet. 1994;8(3):269-74. PubMed PMID: 7874169.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. A1 - Muenke,M, AU - Schell,U, AU - Hehr,A, AU - Robin,N H, AU - Losken,H W, AU - Schinzel,A, AU - Pulleyn,L J, AU - Rutland,P, AU - Reardon,W, AU - Malcolm,S, PY - 1994/11/1/pubmed PY - 1994/11/1/medline PY - 1994/11/1/entrez SP - 269 EP - 74 JF - Nature genetics JO - Nat Genet VL - 8 IS - 3 N2 - Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, was identified in all affected members of five unrelated PS families but not in any unaffected individuals. FGFR1 therefore becomes the third fibroblast growth factor receptor to be associated with an autosomal dominant skeletal disorder. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/7874169/A_common_mutation_in_the_fibroblast_growth_factor_receptor_1_gene_in_Pfeiffer_syndrome_ L2 - https://doi.org/10.1038/ng1194-269 DB - PRIME DP - Unbound Medicine ER -