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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. | LitMetric

AI Article Synopsis

  • Ciliopathies are a group of genetic diseases that vary widely in symptoms; in this study, three patients from two families were diagnosed with Joubert syndrome, showing signs like abnormal breathing, developmental delays, and specific brain imaging results.
  • Researchers found that both families had loss-of-function mutations in the CBY1 gene, which is essential for cilia function, indicating a genetic link to the symptoms presented.
  • Further experiments demonstrated that the mutated CBY1 gene leads to issues in cilia formation and function in patient-derived cells, supporting the conclusion that these mutations cause a ciliopathy with Joubert syndrome features.

Article 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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756669PMC
http://dx.doi.org/10.1002/humu.24127DOI Listing

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