The nonmotile ciliopathies

Genet Med. 2009 Jun;11(6):386-402. doi: 10.1097/GIM.0b013e3181a02882.


Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field, including new animal models, the role of ciliopathy proteins in signaling pathways and development, and the unusual genetics of these diseases. We also discuss the therapeutic potential for these diseases and finally, discuss important future work that will extend our understanding of this fascinating organelle and its associated pathologies.

Publication types

  • Review

MeSH terms

  • Animals
  • Bardet-Biedl Syndrome / genetics
  • Bardet-Biedl Syndrome / metabolism
  • Bardet-Biedl Syndrome / pathology
  • Biological Transport
  • Cilia / metabolism*
  • Cilia / pathology
  • Humans
  • Microtubule-Associated Proteins
  • Models, Biological
  • Mutation
  • Proteins / genetics
  • Proteins / metabolism
  • Signal Transduction*
  • Wnt Proteins / metabolism*


  • Bbs1 protein, human
  • Microtubule-Associated Proteins
  • Proteins
  • Wnt Proteins