Motile and non-motile cilia in human pathology: From function to phenotypes
Open accessAbstract
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.
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Our work challenges the prevailing view that functional defects in either motile or non-motile cilia stem from mutations in distinct groups of proteins and cause clinically separable disorders.
“In conclusion, our work challenges the prevailing view that functional defects in either motile or non-motile cilia stem from mutations in distinct groups of proteins and cause clinically separable disorders12,13.”
From The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision (2022) · cites this paper as [13]
The Abstract describes distinct ciliary protein modules associated with different diseases, which supports part of the view the citing authors describe. But the section ‘Links between motile and non-motile cilia functions’ explicitly reports overlapping clinical features and a gene associated with both types of ciliopathy; the paper does not support treating the disorders as clinically separable. The citing authors’ statement that their own work challenges that view is their conclusion, not a finding attributed to this source. (LLM, conf=0.84)
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“Motile cilia contain dynein motor structures that allow them to move, while non-motile cilia lack these structures [43].”
- Authors
- Mitchison, H. M., & Valente, E. M.
- Affiliations
- University College London (GB)
- University of Salerno (IT)
- Corresponding author
- Mitchison, Hannah M
- Valente, Enza Maria
- Venue
- The Journal of Pathology
- Publisher
- Wiley
- Published
- 2016-12-19
- Volume
- 241
- Issue
- 2
- Pages
- 294-309
- ISSN
- 0022-3417 (ISSN-L)
- 1096-9896
- OpenAlex
- W2549998959
- Cited by
- 448
- References
- 192
- Citations by year
- 2026: 21 · 2025: 48 · 2024: 41 · 2023: 44 · 2022: 53 · 2021: 60 · 2020: 61 · 2019: 53 · 2018: 34 · 2017: 31 · 2016: 1 · 2014: 1
- FWCI
- 5.31
- Type
- journal article
- Language
- en
- Update notices
- correction (2017-02-17)
- Open access
- bronze
- doi.org
- Locations
- The Journal of Pathology (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- University College London
- Action Medical Research (GN2101)
- H2020 European Research Council (260888 – CBCD)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- ciliopathies, motile cilia, ciliary dysfunction, basal bodies, transition zone, intraflagellar transport, ciliary motility, genetic heterogeneity, phenotypic overlap, multisystem disease, family counseling
- MeSH terms
- Ciliopathies, Animals, Cilia, Eye Abnormalities, Humans, Mutation, Neurons, Genetic Heterogeneity
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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