ArticleHuman mutation2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 21 citations in OpenAlex.
- Neurogenic muscular atrophy in NHP2-related dyskeratosis congenita in a family: pathological and molecular insights.Acta neuropathologica · 2026Article
- Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Article
- Analysis of Primary Cilium-Bearing Human Neuroprogenitors Using Flow Cytometry.Stem cells international · 2026Article
- Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis.Scientific reports · 2025Article
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- SMPD4-mediated sphingolipid metabolism regulates brain and primary cilia development.Development (Cambridge, England) · 2024Article
- The Cby3/ciBAR1 complex positions the annulus along the sperm flagellum during spermiogenesis.The Journal of cell biology · 2024Article
- Identifying biomarkers of endoplasmic reticulum stress and analyzing immune cell infiltration in chronic obstructive pulmonary disease using machine learning.Frontiers in medicine · 2024Article
- Kif21a deficiency leads to impaired glomerular filtration barrier function.Scientific reports · 2023Article
- Novel Loss of Function Variants inGenes · 2023Article
- A novel role for the chloride intracellular channel protein Clic5 in ciliary function.Scientific reports · 2023Article
- Article
- ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.Brain : a journal of neurology · 2022Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- DZIP1 regulates mammalian cardiac valve development through a Cby1-β-catenin mechanism.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Loss of the ciliary protein Chibby1 in mice leads to exocrine pancreatic degeneration and pancreatitis.Scientific reports · 2021Article
- Spatial and cell type transcriptional landscape of human cerebellar development.Nature neuroscience · 2021Article
- Identification ofBrain communications · 2021Article
- Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.Human mutation · 2020Article
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Authors and funding
30 authors at 11 institutions in 5 countries.
Funding
Abstract
Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disability, cerebellar ataxia, molar tooth sign on magnetic resonance imaging scans, and polydactyly. We identified biallelic loss-of-function (LOF) variants in CBY1, segregating with the clinical features of Joubert syndrome in the families. CBY1 localizes to the distal end of the mother centriole, contributing to the formation and function of cilia. In accordance with the clinical and mutational findings in the affected individuals, we demonstrated that depletion of Cby1 in zebrafish causes ciliopathy-related phenotypes. Levels of CBY1 transcript were found reduced in the patients compared with controls, suggesting degradation of the mutated transcript through nonsense-mediated messenger RNA decay. Accordingly, we could detect CBY1 protein in fibroblasts from controls, but not from patients by immunofluorescence. Furthermore, we observed reduced ability to ciliate, increased ciliary length, and reduced levels of the ciliary proteins AHI1 and ARL13B in patient fibroblasts. Our data show that CBY1 LOF-variants cause a ciliopathy with features of Joubert syndrome.
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