N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172.


Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet–Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies — a recent concept that describes diseases characterized by dysfunction of a hairlike cellular organelle called the cilium. Most of the proteins that are altered in these single-gene disorders function at the level of the cilium–centrosome complex, which represents nature’s universal system for cellular detection and management of external signals. Cilia are microtubule-based structures found on almost all vertebrate cells. They originate from a basal body, a modified centrosome, which is the organelle that forms the spindle poles during mitosis. The important role that the cilium–centrosome complex plays in the normal function of most tissues appears to account for the involvement of multiple organ systems in ciliopathies. In this review, we consider the role of the cilium in disease.

Publication types

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

MeSH terms

  • Centrosome* / diagnostic imaging
  • Cilia* / ultrastructure
  • Ciliary Motility Disorders* / etiology
  • Ciliary Motility Disorders* / genetics
  • Ciliary Motility Disorders* / metabolism
  • Eye Diseases / genetics
  • Genotype
  • Hedgehog Proteins / metabolism
  • Humans
  • Kidney Diseases / genetics
  • Mutation
  • Phenotype
  • Signal Transduction
  • Ultrasonography


  • Hedgehog Proteins