FGFR3 targeting strategies for achondroplasia

Expert Rev Mol Med. 2012 Jan 19;14:e11. doi: 10.1017/erm.2012.4.


Mutations that exaggerate signalling of the receptor tyrosine kinase fibroblast growth factor receptor 3 (FGFR3) give rise to achondroplasia, the most common form of dwarfism in humans. Here we review the clinical features, genetic aspects and molecular pathogenesis of achondroplasia and examine several therapeutic strategies designed to target the mutant receptor or its signalling pathways, including the use of kinase inhibitors, blocking antibodies, physiologic antagonists, RNAi and chaperone inhibitors. We conclude by discussing the challenges of treating growth plate disorders in children.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Achondroplasia / drug therapy*
  • Achondroplasia / genetics*
  • Achondroplasia / metabolism
  • Antibodies / pharmacology
  • Humans
  • Molecular Targeted Therapy*
  • Mutation
  • Protein Kinase Inhibitors / pharmacology
  • RNA Interference
  • Receptor, Fibroblast Growth Factor, Type 3 / antagonists & inhibitors*
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics*
  • Receptor, Fibroblast Growth Factor, Type 3 / metabolism
  • Signal Transduction / drug effects
  • Signal Transduction / genetics
  • Structure-Activity Relationship


  • Antibodies
  • Protein Kinase Inhibitors
  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3