Pediatric Nephrology

, Volume 26, Issue 7, pp 1039–1056

Ciliopathies: an expanding disease spectrum

Educational Review

DOI: 10.1007/s00467-010-1731-7

Cite this article as:
Waters, A.M. & Beales, P.L. Pediatr Nephrol (2011) 26: 1039. doi:10.1007/s00467-010-1731-7


Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include congenital fibrocystic diseases of the liver, diabetes, obesity and skeletal dysplasias. Ciliopathic features have been associated with mutations in over 40 genes to date. However, with over 1,000 polypeptides currently identified within the ciliary proteome, several other disorders associated with this constellation of clinical features will likely be ascribed to mutations in other ciliary genes. The mechanisms underlying many of the disease phenotypes associated with ciliary dysfunction have yet to be fully elucidated. Several elegant studies have crucially demonstrated the dynamic ciliary localisation of components of the Hedgehog and Wnt signalling pathways during signal transduction. Given the critical role of the cilium in transducing “outside-in” signals, it is not surprising therefore, that the disease phenotypes consequent to ciliary dysfunction are a manifestation of aberrant signal transduction. Further investigation is now needed to explore the developmental and physiological roles of aberrant signal transduction in the manifestation of ciliopathy phenotypes. Utilisation of conditional and inducible murine models to delete or overexpress individual ciliary genes in a spatiotemporal and organ/cell-specific manner should help clarify some of the functional roles of ciliary proteins in the manifestation of phenotypic features.


Ciliopathy Renal disease Retinal disease Heterogeneous 

Supplementary material

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Supplementary Table 1(DOCX 18 kb)
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Supplementary Table 2(DOCX 26 kb)
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Supplementary Table 3(DOCX 28 kb)

Copyright information

© IPNA 2011

Authors and Affiliations

  1. 1.Department of Nephro-UrologyGreat Ormond Street HospitalLondonUK
  2. 2.Molecular Medicine UnitInstitute of Child HealthLondonUK