title: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
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.affiliation: Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287-3914.
authors.forename: E W
authors.initials: EW
authors.lastname: Jabs
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.forename: A F
authors.initials: AF
authors.lastname: Scott
authors.forename: G
authors.initials: G
authors.lastname: Meyers
authors.forename: W
authors.initials: W
authors.lastname: Chen
authors.forename: M
authors.initials: M
authors.lastname: Eccles
authors.forename: J I
authors.initials: JI
authors.lastname: Mao
authors.forename: L R
authors.initials: LR
authors.lastname: Charnas
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: M
authors.initials: M
authors.lastname: Jaye
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D016384:Consensus Sequence; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005796:Genes; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020794:Receptor Protein-Tyrosine Kinases / Q000737:chemistry / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D013577:Syndrome
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2