ArticleAmerican journal of human genetics2014
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 87 citations in OpenAlex.
- Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.Journal of assisted reproduction and genetics · 2019Pooled it
- Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.Human genomics · 2026Article
- CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.Genesis (New York, N.Y. : 2000) · 2026Article
- Exome Sequencing and MRI in Prenatal Diagnosis: A Case Report of Joubert Syndrome in Colombia.Case reports in genetics · 2026Article
- A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth.Nature structural & molecular biology · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Axonemal microtubule dynamics in the assembly and disassembly of cilia.Biochemical Society transactions · 2025Review
- Whole-Exome Sequencing in Recurrent Pregnancy Loss: Current Evidence and Future Directions in Saudi Arabia.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025Review
- CSPP1 preserves quiescent microtubule functions by dual-end capping.Journal of molecular cell biology · 2024Article
- CSPP1 stabilizes microtubules by capping both plus and minus ends.Journal of molecular cell biology · 2024Article
- Novel compound heterozygous variants in theFrontiers in pediatrics · 2024Article
- CSPP1 stabilizes growing microtubule ends and damaged lattices from the luminal side.The Journal of cell biology · 2023Article
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022Review
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.NPJ genomic medicine · 2022Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Identifies microtubule-binding proteinComputational and structural biotechnology journal · 2022Article
- Prenatal alcohol exposure disrupts Sonic hedgehog pathway and primary cilia genes in the mouse neural tube.Reproductive toxicology (Elmsford, N.Y.) · 2021Article
- Aurora Kinase A proximity map reveals centriolar satellites as regulators of its ciliary function.EMBO reports · 2021Article
- The RNA-Binding Protein HuD Regulates Alternative Splicing and Alternative Polyadenylation in the Mouse Neocortex.Molecules (Basel, Switzerland) · 2021Article
Corrections and comments
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Authors and funding
22 authors at 10 institutions in 4 countries.
Funding
Abstract
Ciliopathies are characterized by a pattern of multisystem involvement that is consistent with the developmental role of the primary cilium. Within this biological module, mutations in genes that encode components of the cilium and its anchoring structure, the basal body, are the major contributors to both disease causality and modification. However, despite rapid advances in this field, the majority of the genes that drive ciliopathies and the mechanisms that govern the pronounced phenotypic variability of this group of disorders remain poorly understood. Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele. Consistent with the recently described role of CSPP1 in ciliogenesis, we show that mutant fibroblasts from one affected individual have severely impaired ciliogenesis with concomitant defects in sonic hedgehog (SHH) signaling. Our results expand the list of centrosomal proteins implicated in human ciliopathies.
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