ArticleJournal of human genetics2019
CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia.Cell discovery · 2026Article
- Physical and functional interaction of the ciliopathy proteins Lrrc56 and Odad3 control deployment of axonemal dyneins in vertebrate multiciliated cells.Disease models & mechanisms · 2025Article
- Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration.Investigative ophthalmology & visual science · 2025Article
- Nontuberculous Mycobacteria, Mucociliary Clearance, and Bronchiectasis.Microorganisms · 2024Review
- A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review.Frontiers in genetics · 2024Article
- ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.Frontiers in genetics · 2023Article
- Key gene network related to primary ciliary dyskinesia in hippocampus of patients with Alzheimer's disease revealed by weighted gene co-expression network analysis.BMC neurology · 2022Article
- Clinical phenotypes of primary ciliary dyskinesia.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
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- Wampa is a dynein subunit required for axonemal assembly and male fertility in Drosophila.Developmental biology · 2020Article
- Modelling of pancreatic cancer biology: transcriptomic signature for 3D PDX-derived organoids and primary cell line organoid development.Scientific reports · 2020Article
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Authors and funding
7 authors at 2 institutions in 1 country.
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Abstract
Ciliopathies-are widely recognized and associated with a wide variety of developmental and degenerative disorders. Most cilia-related diseases have renal manifestation, and there is a cross- overlapping relationship between gene mutations and cilia disease. Here, we investigated the clinical and pathological manifestation of a rare disease patient. We present the case of a 15-year-old child with dysplasia and multiple-organ damage who was initially diagnosed with nephrotic syndrome. The patient's kidney disease progressed to renal failure and received hemodialysis 10 months after renal biopsy. The individual presented primary ciliary dyskinesia (PCD) and additional symptoms including sensorineural deafness, kidney dysplasia, severe kidney function loss, and congenital heart disease which potentially linked to primary cilia deficiency. Cilia immunofluorescence of renal tissue showed a decrease in the number of cilium of the patient compared to the normal kidney. We identified a site mutation in CCDC114 (NM_144577 exon7 c. 596Cå T p. Ala199Val) by whole-exon sequences. We found that CCDC114 located at the basal body at cilia and the knockdown of CCDC114 could affect the occurrence of cilia in hRPE1 cells. The previous study of CCDC114 mainly lies in the motile cilia, and this study found that its impact on primary cilia thus broadened the understanding of overlapping function of different types of cilia.
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