The ciliopathies: an emerging class of human genetic disorders.

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.

• Authors: Jose L Badano, Norimasa Mitsuma, Phil L Beales, Nicholas Katsanis
• Journal: Annual review of genomics and human genetics (Annu Rev Genomics Hum Genet) Vol. 7 Pg. 125-48 ( 2006) ISSN: 1527-8204 [Print] United States
• PMID: 16722803 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Molecular Motor Proteins

Topics

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