Roles of FGF receptors in mammalian development and congenital diseases

Birth Defects Res C Embryo Today. 2003 Nov;69(4):286-304. doi: 10.1002/bdrc.10025.


Four fibroblast growth factor receptors (FGFR1-4) constitute a family of transmembrane tyrosine kinases that serve as high affinity receptors for at least 22 FGF ligands. Gene targeting in mice has yielded valuable insights into the functions of this important gene family in multiple biological processes. These include mesoderm induction and patterning; cell growth, migration, and differentiation; organ formation and maintenance; neuronal differentiation and survival; wound healing; and malignant transformation. Furthermore, discoveries that mutations in three of the four receptors result in more than a dozen human congenital diseases highlight the importance of these genes in skeletal development. In this review, we will discuss recent progress on the roles of FGF receptors in mammalian development and congenital diseases, with an emphasis on signal transduction pathways.

Publication types

  • Review

MeSH terms

  • Animals
  • Bone Development
  • Craniosynostoses / genetics
  • Gene Expression Regulation, Developmental
  • Humans
  • Limb Deformities, Congenital / genetics
  • Mammals / growth & development*
  • Mammals / metabolism
  • Mice
  • Mutation
  • Neoplasms / genetics
  • Receptors, Fibroblast Growth Factor / physiology*
  • Signal Transduction


  • Receptors, Fibroblast Growth Factor