ArticleHuman molecular genetics2023
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Article in Human molecular genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- Primary cilium disassembly - from mechanisms to roles in physiology and disease.Journal of cell science · 2026Review
- Characterization of membrane structures regulating primary ciliogenesis by quantitative isotropic ultrastructure imaging.Nature communications · 2026Article
- A microscopy-based CRISPR screening platform enables organellar functional genomics and illuminates ciliary biology.Developmental cell · 2026Article
- Mammalian evolution and human mutation burden in Rab GTPases.Biochemistry and biophysics reports · 2026Article
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Synchronized temporal-spatial analysis via microscopy and phosphoproteomics (STAMP) of quiescence.Science advances · 2025Article
- A tale of Rabs and the exocyst complex in ciliary trafficking and biogenesis.Frontiers in cell and developmental biology · 2025Review
- Lysosomes' fallback strategies: more than just survival or death.Frontiers in cell and developmental biology · 2025Review
- Anorectal malformations.Nature reviews. Disease primers · 2024Review
- A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.Current biology : CB · 2024Article
- A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.bioRxiv : the preprint server for biology · 2024Article
- The primary cilia: Orchestrating cranial neural crest cell development.Differentiation; research in biological diversityReview
- The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning.Differentiation; research in biological diversityArticle
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Authors and funding
15 authors at 6 institutions in 4 countries.
Funding
Abstract
Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogeneous disorders characterized by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in over 20 genes encoding ciliary proteins have been found to cause OFDS through deleterious structural or functional impacts on primary cilia. We identified by exome sequencing bi-allelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families. Affected individuals presented a novel form of OFDS (OFDS-RAB34) accompanied by cardiac, cerebral, skeletal and anorectal defects. RAB34 encodes a member of the Rab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Unlike many genes required for cilium assembly, RAB34 acts selectively in cell types that use the intracellular ciliogenesis pathway, in which nascent cilia begin to form in the cytoplasm. We find that the protein products of these pathogenic variants, which are clustered near the RAB34 C-terminus, exhibit a strong loss of function. Although some variants retain the ability to be recruited to the mother centriole, cells expressing mutant RAB34 exhibit a significant defect in cilium assembly. While many Rab proteins have been previously linked to ciliogenesis, our studies establish RAB34 as the first small GTPase involved in OFDS and reveal the distinct clinical manifestations caused by impairment of intracellular ciliogenesis.
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