ArticleHuman mutation2013
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 114 papers, 4 of them syntheses that pooled it.
What it found
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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.
Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age
Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age
Who cites it
114 citing papers in PubMed, 4 syntheses or guidelines pooled it, 190 citations in OpenAlex.
- Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.BMC pulmonary medicine · 2019Pooled it
- Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.Pediatric research · 2017Pooled it
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatric pulmonology · 2016Guideline
- A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms.Ultrastructural pathology · 2014Trial
- mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivo.American journal of respiratory cell and molecular biology · 2026Article
- Article
- Defining Functional Correction Thresholds in Primary Ciliary Dyskinesia for Effective Gene Therapies.bioRxiv : the preprint server for biology · 2026Article
- Novel Compound Heterozygous CFAP53 Variants in a Fetus With Situs Inversus Totalis: A Case Report.Cureus · 2026Article
- Systems perspectives on pediatric otitis media: environmental exposures, genetic susceptibility, and biomarker-guided interventions.Frontiers in pediatrics · 2026Review
- CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.The American journal of case reports · 2025Article
- AggreBots: Configuring CiliaBots through guided, modular tissue aggregation.Science advances · 2025Article
- Clinical development of therapeutic mRNA applications.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Article
- Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.The European respiratory journal · 2024Article
- Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- Three cases of sperm immobility for intracytoplasmic sperm injection using testicular sperm.IJU case reports · 2024Article
- CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men.Journal of cellular and molecular medicine · 2024Article
- Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.bioRxiv : the preprint server for biology · 2024Article
54 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
35 authors at 13 institutions in 4 countries.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia and sperm dysmotility. About 12% of cases show perturbed 9+2 microtubule cilia structure and inner dynein arm (IDA) loss, historically termed "radial spoke defect." We sequenced CCDC39 and CCDC40 in 54 "radial spoke defect" families, as these are the two genes identified so far to cause this defect. We discovered biallelic mutations in a remarkable 69% (37/54) of families, including identification of 25 (19 novel) mutant alleles (12 in CCDC39 and 13 in CCDC40). All the mutations were nonsense, splice, and frameshift predicting early protein truncation, which suggests this defect is caused by "null" alleles conferring complete protein loss. Most families (73%; 27/37) had homozygous mutations, including families from outbred populations. A major putative hotspot mutation was identified, CCDC40 c.248delC, as well as several other possible hotspot mutations. Together, these findings highlight the key role of CCDC39 and CCDC40 in PCD with axonemal disorganization and IDA loss, and these genes represent major candidates for genetic testing in families affected by this ciliary phenotype. We show that radial spoke structures are largely intact in these patients and propose this ciliary ultrastructural abnormality be referred to as "IDA and microtubular disorganisation defect," rather than "radial spoke defect."
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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.