ArticleEuropean journal of human genetics : EJHG2018
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathology and applied neurobiology · 2021Pooled it
- Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.Clinical genetics · 2026Article
- The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.PLoS biology · 2025Article
- Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.Human molecular genetics · 2025Article
- Syndromic ciliopathy: a taiwanese single-center study.BMC medical genomics · 2024Article
- Article
- NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.Human genetics · 2021Article
- Mutation in the Ciliary Protein C2CD3 Reveals Organ-Specific Mechanisms of Hedgehog Signal Transduction in Avian Embryos.Journal of developmental biology · 2021Article
- Impact of integrated translational research on clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling.Development (Cambridge, England) · 2021Article
- The essential role of primary cilia in cerebral cortical development and disorders.Current topics in developmental biology · 2021Review
- Centriolar Protein C2cd3 Is Required for Craniofacial Development.Frontiers in cell and developmental biology · 2021Article
- Synergistic Genetic Interactions betweenJournal of the American Society of Nephrology : JASN · 2019Article
- CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.Scientific reports · 2019Article
- A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.PloS one · 2019Article
- The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning.Differentiation; research in biological diversityArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
Abstract
Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent publications suggest that WES reveals the genetic cause in ~25% of these cases and is most successful when applied to children with neurological disease. The residual 75% of cases remain genetically elusive until more information becomes available in the literature or functional studies are pursued. WES performed on three families with presumed ciliopathy diagnoses, including orofaciodigital (OFD) syndrome, fetal encephalocele, or Joubert-related disorder, identified compound heterozygous variants in C2CD3. Biallelic variants in C2CD3 have previously been associated with ciliopathies, including OFD syndrome type 14 (OFD14; MIM: 615948). As three of the six identified variants were predicted to affect splicing, exon-skipping analysis using either RNA sequencing or PCR-based methods were completed to determine the pathogenicity of these variants, and showed that each of the splicing variants led to a frameshifted protein product. Using these studies in combination with the 2015 ACMG guidelines, each of the six identified variants were classified as either pathogenic or likely pathogenic, and are therefore likely responsible for our patients' phenotypes. Each of the families had a distinct clinical phenotype and severity of disease, extending from lethal to viable. These findings highlight that there is a broad phenotypic spectrum associated with C2CD3-mediated disease and not all patients present with the typical features of OFD14.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.