Ciliopathies: an expanding disease spectrum
Open accessAbstract
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.
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All ciliopathies share one phenotype, cognitive impairment.
“All ciliopathies share one phenotype, cognitive impairment [37–42].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [42]
The section on Alström syndrome describes it as a ciliopathy with relative preservation of cognitive function, in contrast to Bardet–Biedl syndrome. The paper therefore does not support cognitive impairment as a phenotype shared by all ciliopathies. (LLM, conf=0.88)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredImpaired Shh signaling results in similar phenotypes as those observed in patients with disrupted cilia structure or function.
“Impaired Shh signaling results in similar phenotypes as those observed in patients with disrupted cilia structure or function [37–42].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [42]
The Hedgehog signalling section links defective ciliary transport to impaired Shh signalling, and the Wnt signalling section describes mouse mutants with disrupted ciliogenesis, Hedgehog defects, neural tube defects and skeletal abnormalities. The Abstract lists skeletal and cerebral abnormalities among human ciliopathy features. The paper does not directly establish that impaired Shh signalling independently produces the same phenotypes seen in patients with disrupted cilia. (LLM, conf=0.78)
Experimental — accuracy not yet measured
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- Authors
- Waters, A. M., & Beales, P. L.
- Affiliations
- Great Ormond Street Hospital (GB)
- Corresponding author
- Waters, Aoife M.
- Venue
- Pediatric Nephrology
- Published
- 2011-07
- Volume
- 26
- Issue
- 7
- Pages
- 1039-1056
- ISSN
- 0931-041X (ISSN-L)
- 1432-198X
- PMC
- PMC3098370
- OpenAlex
- W2077712321
- Cited by
- 676
- References
- 132
- Citations by year
- 2026: 12 · 2025: 28 · 2024: 38 · 2023: 49 · 2022: 56 · 2021: 49 · 2020: 65 · 2019: 67 · 2018: 52 · 2017: 59 · 2016: 53 · 2015: 45 · 2014: 33 · 2013: 34 · 2012: 30
- FWCI
- 3.46
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Pediatric Nephrology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust
- Medical Research Council
- 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, ciliary dysfunction, ciliary genes, ciliary proteome, retinal degeneration, kidney disease, diabetes mellitus, obesity, skeletal dysplasia, Hedgehog signaling, Wnt signaling, signal transduction, genetic mutations, conditional mouse model
- MeSH terms
- Animals, Cilia, Ciliary Motility Disorders, Humans, Kidney Diseases, Liver Diseases, Mutation, Phenotype, Retinal Diseases, Signal Transduction, Genetic Predisposition to Disease
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.
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