ArticleAmerican journal of human genetics2014
Mutations in CSPP1 lead to classical Joubert syndrome.
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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 45 papers.
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45 citing papers in PubMed, 88 citations in OpenAlex.
- Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.Brain : a journal of neurology · 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
- Axonemal microtubule dynamics in the assembly and disassembly of cilia.Biochemical Society transactions · 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
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 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
- A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.CEN case reports · 2022Article
- Identifies microtubule-binding proteinComputational and structural biotechnology journal · 2022Article
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- The RNA-Binding Protein HuD Regulates Alternative Splicing and Alternative Polyadenylation in the Mouse Neocortex.Molecules (Basel, Switzerland) · 2021Article
- The essential role of primary cilia in cerebral cortical development and disorders.Current topics in developmental biology · 2021Review
- Healthcare recommendations for Joubert syndrome.American journal of medical genetics. Part A · 2020Review
- The Ciliary Protein Arl13b Functions Outside of the Primary Cilium in Shh-Mediated Axon Guidance.Cell reports · 2019Article
- A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.Cell reports · 2019Article
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Authors and funding
24 authors at 10 institutions in 5 countries.
Naiara AkizuNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Jennifer L SilhavyNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Rasim Ozgur RostiNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Eric ScottNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Ali G FenstermakerNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Jana SchrothNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
Henry SanchezPediatrics Department, Palo Alto Medical Foundation, Fremont, CA 94538, USA.
Neerja GuptaDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
Madhulika KabraDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
Majdi KaraDepartment of Pediatrics, Tripoli Children's Hospital, PO Box 2214, Tripoli, Libya.
Tawfeg Ben-OmranClinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar.
Basak RostiNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Alicia Guemez-GamboaNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Emily SpencerNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Roger PanNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Na CaiNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Mostafa AbdellateefNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
Stacey GabrielThe Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
Jan HalbritterHoward Hughes Medical Institute; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Friedhelm HildebrandtHoward Hughes Medical Institute; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Hans van BokhovenDepartment of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
Murat GunelYale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Joseph G GleesonNeurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address: jogleeson@ucsd.edu.
Howard Hughes Medical Institute · USUniversity of California, San Diego · USAll India Institute of Medical Sciences · INBoston Children's Hospital · USBroad Institute · USHamad Medical Corporation · QANational Research Centre · EGPalo Alto Institute · USRadboud University Nijmegen · NLYale University · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MRenal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MU of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0MProject 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7MNovel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MDoublecortin In Neuronal MigrationR01NS041537 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2002 to 2014
$3.9MJouberin and Nephrocystin in Joubert SyndromeR01NS052455 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2007 to 2015
$3.0MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kHoward Hughes Medical InstituteNHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54HG003067NHGRI NIH HHS U54 HG006504NHGRI NIH HHS U54HG006504NICHD NIH HHS P01 HD070494NICHD NIH HHS P01HD070494NIDDK NIH HHS DK068306NIDDK NIH HHS P30 DK079310NIDDK NIH HHS R01 DK068306NIH HHS S10 OD018521NINDS NIH HHS P30 NS047101NINDS NIH HHS P30NS047101NINDS NIH HHS R01 NS041537NINDS NIH HHS R01NS041537NINDS NIH HHS R01 NS048453NINDS NIH HHS R01NS048453NINDS NIH HHS R01 NS052455NINDS NIH HHS R01NS052455
Abstract
Joubert syndrome and related disorders (JSRDs) are genetically heterogeneous and characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina, and kidney. We identified predicted null mutations in CSPP1 in six individuals affected by classical JSRDs. CSPP1 encodes a protein localized to centrosomes and spindle poles, as well as to the primary cilium. Despite the known interaction between CSPP1 and nephronophthisis-associated proteins, none of the affected individuals in our cohort presented with kidney disease, and further, screening of a large cohort of individuals with nephronophthisis demonstrated no mutations. CSPP1 is broadly expressed in neural tissue, and its encoded protein localizes to the primary cilium in an in vitro model of human neurogenesis. Here, we show abrogated protein levels and ciliogenesis in affected fibroblasts. Our data thus suggest that CSPP1 is involved in neural-specific functions of primary cilia.
Indexed as
Gene DeletionAbnormalities, MultipleBrainCell Cycle ProteinsCentrosomeCerebellar DiseasesCerebellumCiliaCohort StudiesEye AbnormalitiesFibroblastsHumansImage Processing, Computer-AssistedKidney Diseases, CysticMicrotubule-Associated ProteinsPolymorphism, Single NucleotideCell Cycle ProteinsCSPP1 protein, humanMicrotubule-Associated Proteins
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