The ciliopathies: An emerging class of human genetic disorders

Jose L. Badano*, Norimasa Mitsuma, Phil L. Beales, Elias Nicholas Katsanis

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

834 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationAnnual Review of Genomics and Human Genetics
EditorsAravinda Chakravarti, Eric Green
Number of pages24
StatePublished - 2006

Publication series

NameAnnual Review of Genomics and Human Genetics
ISSN (Print)1527-8204


  • Cilia
  • Cystic disease
  • Exencephaly
  • Flagella
  • Polydactyly
  • Retinal dystrophy

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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