ArticleAmerican journal of human genetics2015
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
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Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- 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
- Proteomic composition and mutual assembly of the C2a projection in vertebrate motile cilia.eLife · 2026Article
- DNAJB13 polymorphisms and association with idiopathic asthenozoospermia in Sichuan, China.Basic and clinical andrology · 2025Article
- Male infertility.Systems biology in reproductive medicine · 2025Review
- Heterogeneity of radial spoke components in Tetrahymena cilia.Cellular and molecular life sciences : CMLS · 2025Article
- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- Review
- Multifaceted Primary Ciliary Dyskinesia-A Case Report.Reports (MDPI) · 2025Article
- Identified Candidate Genes of Semen Trait in Three Pig Breeds Through Weighted GWAS and Multi-Tissue Transcriptome Analysis.Animals : an open access journal from MDPI · 2025Article
- Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.Frontiers in molecular biosciences · 2025Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.eLife · 2023Article
- Mapping the Most Common Founder Variant inJournal of clinical medicine · 2023Article
- Balanced SET levels favor the correct enhancer repertoire during cell fate acquisition.Nature communications · 2023Article
- Article
- BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.Cellular and molecular life sciences : CMLS · 2023Article
- Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.Human genomics · 2023Article
- Review
- TheInternational journal of molecular sciences · 2023Review
Corrections and comments
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Authors and funding
21 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive condition resulting from structural and/or functional defects of the axoneme in motile cilia and sperm flagella. The great majority of mutations identified so far involve genes whose defects result in dynein-arm anomalies. By contrast, PCD due to CC/RS defects (those in the central complex [CC] and radial spokes [RSs]), which might be difficult to diagnose, remains mostly unexplained. We identified non-ambiguous RSPH3 mutations in 5 of 48 independent families affected by CC/RS defects. RSPH3, whose ortholog in the flagellated alga Chlamydomonas reinhardtii encodes a RS-stalk protein, is mainly expressed in respiratory and testicular cells. Its protein product, which localizes within the cilia of respiratory epithelial cells, was undetectable in airway cells from an individual with RSPH3 mutations and in whom RSPH23 (a RS-neck protein) and RSPH1 and RSPH4A (RS-head proteins) were found to be still present within cilia. In the case of RSPH3 mutations, high-speed-videomicroscopy analyses revealed the coexistence of immotile cilia and motile cilia with movements of reduced amplitude. A striking feature of the ultrastructural phenotype associated with RSPH3 mutations is the near absence of detectable RSs in all cilia in combination with a variable proportion of cilia with CC defects. Overall, this study shows that RSPH3 mutations contribute to disease in more than 10% of PCD-affected individuals with CC/RS defects, thereby allowing an accurate diagnosis to be made in such cases. It also unveils the key role of RSPH3 in the proper building of RSs and the CC in humans.
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