title: Mouse models of Apert syndrome.
abstract: BACKGROUND
  Apert syndrome is one of the more clinically distinct craniosynostosis syndromes in man. It is caused by gain-of-function mutations in FGFR2, over 98% of which are the two amino acid substitution mutations S252W and P253R. FGFR2 is widely expressed throughout development, so that many tissues are adversely affected in Apert syndrome, particularly the calvarial bones, which begin to fuse during embryonic development, and the brain.
  
  
  CONCLUSIONS
  Mouse models of both of these two causative mutations and a third rare splice mutation have been created and display many of the phenotypes typical of Apert syndrome. The molecular and cellular mechanisms underlying Apert phenotypes have begun to be elucidated, and proof-of-principle treatment of these phenotypes by chemical inhibitor and gene-based therapies has been demonstrated.
authors.affiliation: Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, 1428 Madison Avenue, New York, NY 10029, USA. gregory.holmes@mssm.edu
authors.forename: Greg
authors.initials: G
authors.lastname: Holmes
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D000818:Animals; D004195:Disease Models, Animal; D005838:Genotype; D006801:Humans; D051379:Mice; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: C496354:Fgfr2 protein, mouse; D051497:Receptor, Fibroblast Growth Factor, Type 2