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J Pathol. 2017 Jan;241(2):294-309. doi: 10.1002/path.4843.

Motile and non-motile cilia in human pathology: from function to phenotypes.

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Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
Neurogenetics Unit, IRCCS Santa Lucia Foundation, Via del Fosso di Fiorano, 00143, Rome, Italy.


Ciliopathies are inherited human disorders caused by both motile and non-motile cilia dysfunction that form an important and rapidly expanding disease category. Ciliopathies are complex conditions to diagnose, being multisystem disorders characterized by extensive genetic heterogeneity and clinical variability with high levels of lethality. There is marked phenotypic overlap among distinct ciliopathy syndromes that presents a major challenge for their recognition, diagnosis, and clinical management, in addition to posing an on-going task to develop the most appropriate family counselling. The impact of next-generation sequencing and high-throughput technologies in the last decade has significantly improved our understanding of the biological basis of ciliopathy disorders, enhancing our ability to determine the possible reasons for the extensive overlap in their symptoms and genetic aetiologies. Here, we review the diverse functions of cilia in human health and disease and discuss a growing shift away from the classical clinical definitions of ciliopathy syndromes to a more functional categorization. This approach arises from our improved understanding of this unique organelle, revealed through new genetic and cell biological insights into the discrete functioning of subcompartments of the cilium (basal body, transition zone, intraflagellar transport, motility). Mutations affecting these distinct ciliary protein modules can confer different genetic diseases and new clinical classifications are possible to define, according to the nature and extent of organ involvement. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.


Bardet-Biedl syndrome; Joubert syndrome; Meckel syndrome; cilia; ciliogenesis; ciliopathies; kidney cystic diseases; oral-facial-digital syndrome; signalling; skeletal dysplasia

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