ArticleeLife2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
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Article in eLife, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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57citing papers in PubMed
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Who cites it
57 citing papers in PubMed, 121 citations in OpenAlex.
- Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome.Molecular genetics and metabolism reports · 2026Article
- Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.Cytoskeleton (Hoboken, N.J.) · 2026Article
- Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant.Prenatal diagnosis · 2025Article
- A CRISPR activation screen reveals a cilia disassembly pathway mutated in focal cortical dysplasia.Science advances · 2025Article
- Advances in ciliary proteomics - towards cracking the hidden proteome code of cilia.Journal of cell science · 2025Review
- Molecular treatment options for patients carryingMolecular therapy. Nucleic acids · 2025Article
- A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.Neurogenetics · 2025Article
- PathogeniciScience · 2025Article
- Article
- CilioGenics: an integrated method and database for predicting novel ciliary genes.Nucleic acids research · 2024Article
- Emerging insights into CP110 removal during early steps of ciliogenesis.Journal of cell science · 2024Review
- Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.Journal of medical genetics · 2023Article
- Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.European journal of human genetics : EJHG · 2023Article
- The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.Orphanet journal of rare diseases · 2023Observational
- A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.BMC medical genomics · 2023Article
- Appearing and disappearing acts of cilia.Journal of biosciences · 2023Review
- A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome.Frontiers in cell and developmental biology · 2023Article
- Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3-implications for Joubert syndrome.Human molecular genetics · 2022Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
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Authors and funding
44 authors at 20 institutions in 11 countries.
Susanne RoosingLaboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States.
Matan HofreeDepartment of Computer Science and Engineering, University of California, San Diego, San Diego, United States.
Sehyun KimDepartment of Pathology and Cancer Institute, Smilow Research Center, New York University School of Medicine, New York, United States.
Eric ScottLaboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States.
Brett CopelandLaboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States.
Marta RomaniIRCCS Casa Sollievo della Sofferenza, Mendel Institute, San Giovanni Rotondo, Italy.
Jennifer L SilhavyLaboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States.
Rasim O RostiLaboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States.
Jana SchrothLaboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States.
Tommaso MazzaIRCCS Casa Sollievo della Sofferenza, Mendel Institute, San Giovanni Rotondo, Italy.
Elide MiccinilliIRCCS Casa Sollievo della Sofferenza, Mendel Institute, San Giovanni Rotondo, Italy.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo, Egypt.
Kathryn J SwobodaDepartments of Neurology and Pediatrics, University of Utah School of Medicine, Salt Lake City, United States.
Joanne Milisa-DrautzDepartment of Pediatric Genetics, University of New Mexico, Albuquerque, United States.
William B DobynsCenter for Integrative Brain Research, Seattle Children's Hospital, Seattle, United States.
Mohamed A MikatiDivision of Pediatric Neurology, Department of Pediatrics, Duke Institute for Brain Sciences, Duke University Medical Center, Durham, United States.
Faruk İncecikDepartment of Pediatric Neurology, Cukurova University Medical Faculty, Balcali, Turkey.
Matloob AzamDepartment of Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan.
Renato BorgattiNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Romina RomanielloNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Rose-Mary BoustanyDepartments of Pediatrics, Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Carol L ClericuzioDivision of Genetics/Dysmorphology, Department Pediatrics, University of New Mexico, Albuquerque, United States.
Stefano D'ArrigoDevelopmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Petter StrømmeWomen and Children's Division, Oslo University Hospital, Oslo, Norway.
Eugen BoltshauserDepartment of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
Franco StanzialDepartment of Pediatrics, Genetic Counselling Service, Regional Hospital of Bolzano, Bolzano, Italy.
Marisol Mirabelli-BadenierChild Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G. Gaslini, Genoa, Italy.
Isabella MoroniUnit of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Enrico BertiniUnit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
Francesco EmmaDivision of Nephrology and Dialysis, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Maja SteinlinUniversity Children's Hospital, Berne, Switzerland.
Friedhelm HildebrandtDivision of Nephrology, Department of Medicine, Boston Children's Hospital, Howard Hughes Medical Institute, Harvard Medical School, Boston, United States.
Colin A JohnsonSection of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.
Michael FreilingerNeuropediatric group, Department of Paediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria.
Keith K VauxLaboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States.
Stacey B GabrielBroad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, United States.
Pedro Aza-BlancHigh Content Screening Systems, Sanford-Burnham Institute, La Jolla, United States.
Susanne Heynen-GenelHigh Content Screening Systems, Sanford-Burnham Institute, La Jolla, United States.
Trey IdekerDepartment of Computer Science and Engineering, University of California, San Diego, San Diego, United States.
Brian D DynlachtDepartment of Pathology and Cancer Institute, Smilow Research Center, New York University School of Medicine, New York, United States.
Ji Eun LeeSamsung Genome Institute, Department of Health Sciences and Technology, Samsung Advanced Institute of Health Sciences and Technology, Sungkyunkwan University, Seoul, Republic of Korea.
Enza Maria ValenteIRCCS Casa Sollievo della Sofferenza, Mendel Institute, San Giovanni Rotondo, Italy.
Joon KimKorea Advanced Institute of Science and Technology, School of Medical Science and Engineering, Daejeon, Republic of Korea.
Joseph G GleesonLaboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States.
New York Genome Center · USRockefeller University · USBambino Gesù Children's Hospital · ITCasa Sollievo della Sofferenza · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITHoward Hughes Medical Institute · USIRCCS Eugenio Medea · ITNew York University · USSanford Burnham Prebys Medical Discovery Institute · USUniversity of California, San Diego · USUniversity of New Mexico · USAmerican University of Beirut Medical Center · LBBoston Children's Hospital · USCukurova University · TRDuke Medical Center · USIstituti di Ricovero e Cura a Carattere Scientifico · ITIstituto Giannina Gaslini · ITKorea Advanced Institute of Science and Technology · KRMassachusetts Institute of Technology · USMedical University of Vienna · AT
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MTR&D 3 - Network Guided Machine LearningP41GM103504 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IDEKER, TREY · 2012 to 2024
$17.3MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MThe Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9MU 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
$3.0MThe Role of CP110 in CiliogenesisR01HD069647 · NICHD · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI DYNLACHT, BRIAN D · 2011 to 2015
$1.5MREGULATION OF PROSTATE BLOOD FLOW BY ANDROGENSR01DK056808 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BUTTYAN, RALPH · 2000 to 2003
$1.0MEuropean Research Council 260888Howard Hughes Medical InstituteMedical Research Council MR/M000532/1NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54HG003067NHGRI NIH HHS U54 HG006504NHGRI NIH HHS U54HG006504NICHD NIH HHS 1R01HD069647-03NICHD NIH HHS P01 HD070494NICHD NIH HHS P01HD070494NICHD NIH HHS R01 HD069647NIDDK NIH HHS R01 DK056808NIDDK NIH HHS R01 DK068306NIDDK NIH HHS R01DK068306NIDDK NIH HHS R01DK068308NIGMS NIH HHS P41 GM103504NINDS NIH HHS P03NS047101NINDS NIH HHS P30 NS047101NINDS NIH HHS P30NS047101NINDS NIH HHS R01 NS041537NINDS NIH HHS R01NS041537NINDS NIH HHS R01 NS048453NINDS NIH HHS R01NS048453NINDS NIH HHS R01 NS050375NINDS NIH HHS R01 NS052455NINDS NIH HHS R01NS052455Telethon GGP13146
Abstract
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-learning approach, using SYSCILIA gold standard, Cildb3.0, a centriole siRNA screen and the GTex project, identifying 591 likely candidates. Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586. A c.428del base deletion in 0.1% of the general population was found in trans with a second mutation in an additional set of 9 of 163 unexplained JS patients. KIAA0586 is an orthologue of chick Talpid3, required for ciliogenesis and Sonic hedgehog signaling. Our results uncover a relatively high frequency cause for JS and contribute a list of candidates for future gene discoveries in ciliopathies.
Indexed as
Genetic Predisposition to DiseaseAbnormalities, MultipleCell Cycle ProteinsCerebellumEye AbnormalitiesGene FrequencyGenetic TestingGenome-Wide Association StudyHeterozygoteHumansKidney Diseases, CysticMutant ProteinsRetinaRNA, Small InterferingCell Cycle ProteinsKIAA0586 protein, humanMutant ProteinsRNA, Small Interferingciliopathydevelopmental biologyhigh-content screenhumanhuman biologyJoubert syndromeKIAA0586medicinesiRNAstem cellsTalpid3
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