title: A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
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.affiliation: Children's Hospital of Philadelphia.
authors.forename: M
authors.initials: M
authors.lastname: Muenke
authors.forename: U
authors.initials: U
authors.lastname: Schell
authors.forename: A
authors.initials: A
authors.lastname: Hehr
authors.forename: N H
authors.initials: NH
authors.lastname: Robin
authors.forename: H W
authors.initials: HW
authors.lastname: Losken
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: L J
authors.initials: LJ
authors.lastname: Pulleyn
authors.forename: P
authors.initials: P
authors.lastname: Rutland
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D003398:Craniosynostoses / Q000235:genetics*; D005091:Exons; D005260:Female; D005796:Genes; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000737:chemistry / Q000235:genetics*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1