The ciliopathies: an emerging class of human genetic disorders.
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.
Badano
Jose L
JL
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA.
Mitsuma
Norimasa
N
Beales
Phil L
PL
Katsanis
Nicholas
N
D002925:Ciliary Motility Disorders / Q000235:genetics* / Q000473:pathology; D030342:Genetic Diseases, Inborn; D006801:Humans; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
D020409:Molecular Motor Proteins