The ciliopathies: an emerging class of human genetic disorders

Annu Rev Genomics Hum Genet. 2006:7:125-48. doi: 10.1146/annurev.genom.7.080505.115610.

Abstract

Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Ciliary Motility Disorders / genetics*
  • Ciliary Motility Disorders / pathology
  • Genetic Diseases, Inborn
  • Humans
  • Molecular Motor Proteins / genetics*
  • Mutation
  • Phenotype

Substances

  • Molecular Motor Proteins