FGFR activation in skeletal disorders: too much of a good thing

Trends Genet. 1997 May;13(5):178-82. doi: 10.1016/s0168-9525(97)01131-1.


During the past two years, a growing number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as causing autosomal dominant disorders of skeletal and cranial development. These mutations map to the extracellular domain, the transmembrane domain, or the tyrosine kinase domain of these receptors. Recent studies demonstrate that a common mechanism, constitutive activation of receptors signaling, underlies most, if not all, of these disorders. This suggests a normal role for FGFRs in the negative regulation of bone growth.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Bone Diseases, Developmental / genetics*
  • Craniosynostoses / genetics*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Receptors, Fibroblast Growth Factor / genetics*


  • Receptors, Fibroblast Growth Factor