title: [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
abstract: One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and this is followed by activation of the intracellular tyrosine kinase domains. This initiates a cascade of signals that influence cell division and differentiation. FGFR2 mutations have been found in the Apert, Crouzon and Pfeiffer craniosynostosis syndromes. Most mutations are gain of function mutations, inducing ligand-independent receptor activation or altered ligand binding. With the exception of Apert syndrome, there is no clear genotype-phenotype correlation. Many different mutations have been found in Pfeiffer and Crouzon syndrome, but all of the mutations occur in the same extracellular region of the receptor. Identical mutations have been found in Pfeiffer and Crouzon syndrome. So within one family, both Crouzon and Pfeiffer syndrome may occur. Mutations in other FGFR-genes have also been found in craniosynostosis syndromes.
authors.affiliation: Universitair Medisch Centrum St Radboud, afd. Antropogenetica 417, Postbus 9101, 6500 HB Nijmegen. c.vanravenswaay@antrg.azn.nl
authors.forename: C M A
authors.initials: CM
authors.lastname: van Ravenswaaij-Arts
authors.forename: A M W
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: A J M
authors.initials: AJ
authors.lastname: Hoogeboom
authors.forename: J
authors.initials: J
authors.lastname: Herbergs
authors.forename: G
authors.initials: G
authors.lastname: Pals
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D003398:Craniosynostoses / Q000453:epidemiology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D009426:Netherlands / Q000453:epidemiology; D010641:Phenotype; D015995:Prevalence; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; 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