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

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.

Original languageEnglish (US)
Title of host publicationAnnual Review of Genomics and Human Genetics
EditorsAravinda Chakravarti, Eric Green
Pages125-148
Number of pages24
DOIs
StatePublished - 2006

Publication series

NameAnnual Review of Genomics and Human Genetics
Volume7
ISSN (Print)1527-8204

Keywords

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

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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