ArticleAmerican journal of human genetics2018
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 76 citations in OpenAlex.
- Cfap300 regulates the transdifferentiation of Corpuscle of Stannius cells in zebrafish.Cell communication and signaling : CCS · 2026Article
- Gene signature linked to inhaled corticosteroid-induced lung function improvement in COPD: insights from the GLUCOLD Study.ERJ open research · 2026Article
- CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.Asian journal of andrology · 2025Article
- DynAPs and cytoplasmic assembly of axonemal dyneins.Journal of cell science · 2025Article
- Structural diversity and unity amongst axonemal dynein assembly factors.Journal of cell science · 2025Review
- Primary Ciliary Dyskinesia-Current Diagnostic and Therapeutic Approach.Journal of clinical medicine · 2025Review
- CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.International journal of molecular sciences · 2025Article
- The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population.Prenatal diagnosis · 2025Article
- Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia.Reproductive biology and endocrinology : RB&E · 2025Article
- Case Report: Identification of a novel hemizygousFrontiers in medicine · 2025Article
- Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.Orphanet journal of rare diseases · 2024Article
- A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia.Molecular genetics and genomics : MGG · 2024Article
- IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.PLoS genetics · 2023Article
- Three-dimensional microCT imaging of mouse heart development from early post-implantation to late fetal stages.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Review
- PCD Genes-From Patients to Model Organisms and Back to Humans.International journal of molecular sciences · 2022Review
- Article
- Review
- Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.The European respiratory journal · 2021Article
- UsingGenes · 2021Review
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 4 countries.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by mutations affecting the core axoneme structure of motile cilia that is essential for movement. Genes that cause PCD when mutated include a group that encode proteins essential for the assembly of the ciliary dynein motors and the active transport process that delivers them from their cytoplasmic assembly site into the axoneme. We screened a cohort of affected individuals for disease-causing mutations using a targeted next generation sequencing panel and identified two unrelated families (three affected children) with mutations in the uncharacterized C11orf70 gene (official gene name CFAP300). The affected children share a consistent PCD phenotype from early life with laterality defects and immotile respiratory cilia displaying combined loss of inner and outer dynein arms (IDA+ODA). Phylogenetic analysis shows C11orf70 is highly conserved, distributed across species similarly to proteins involved in the intraflagellar transport (IFT)-dependant assembly of axonemal dyneins. Paramecium C11orf70 RNAi knockdown led to combined loss of ciliary IDA+ODA with reduced cilia beating and swim velocity. Tagged C11orf70 in Paramecium and Chlamydomonas localizes mainly in the cytoplasm with a small amount in the ciliary component. IFT139/TTC21B (IFT-A protein) and FLA10 (IFT kinesin) depletion experiments show that its transport within cilia is IFT dependent. During ciliogenesis, C11orf70 accumulates at the ciliary tips in a similar distribution to the IFT-B protein IFT46. In summary, C11orf70 is essential for assembly of dynein arms and C11orf70 mutations cause defective cilia motility and PCD.
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