ArticleNature genetics2016
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 88 papers.
0numbers the graph read from it
0cells of the map it votes in
88citing papers in PubMed
7.8field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
88 citing papers in PubMed, 145 citations in OpenAlex.
- Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.Genome biology · 2020Trial
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- The first reported case of Labrune syndrome in Vietnam with 4-year longitudinal follow-up: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision Therapeutics.Genes · 2026Review
- Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.Nature genetics · 2026Article
- Literature review of leukoencephalopathy with calcifications and cysts and a case report.Frontiers in neuroscience · 2026Article
- Small Nucleolar RNAs (snoRNAs) in Cancer: From Biogenesis to Clinical Potential.OncoTargets and therapy · 2026Review
- From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.Frontiers in epigenetics and epigenomics · 2026Review
- Systematic analysis of noncanonical ribosomal protein paralogs does not provide evidence for specialized functions inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- A U3 snoRNA is required for the regulation of chromatin dynamics and antiviral response in Drosophila melanogaster.Nucleic acids research · 2025Article
- The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.Physiological reviews · 2025Review
- Leukoencephalopathy With Cerebral Calcifications and Cysts With NovelJournal of clinical neurology (Seoul, Korea) · 2025Article
- Small Nucleolar RNAs: Biological Functions and Diseases.MedComm · 2025Review
- snoRNA-facilitated protein secretion revealed by transcriptome-wide snoRNA target identification.Cell · 2025Article
- Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.Rare (Amsterdam, Netherlands) · 2025Article
- A Rare Genetic Cause of Spastic Paraparesis.Neurology · 2024Article
- Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.Obstetric medicine · 2024Article
- Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.American journal of medical genetics. Part A · 2024Article
28 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
66 authors at 20 institutions in 12 countries.
Emma M JenkinsonFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Mathieu P RoderoLaboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.
Paul R KasherFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Carolina UggentiLaboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.
Anthony OojageerFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Laurence C GooseyFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Yoann RoseLaboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.
Christopher J KershawFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, Manchester, UK.
Jill E UrquhartFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Simon G WilliamsFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Sanjeev S BhaskarFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
James O'SullivanFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Gabriela M BaerlocherDepartment of Hematology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Monika HaubitzDepartment of Hematology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Geraldine AubertRepeat Diagnostics, Inc., North Vancouver, British Columbia, Canada.
Kristin W BarañanoDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Angela J BarnicoatDepartment of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Roberta BattiniDepartment of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.
Andrea BergerDepartment of Neuropediatrics, Klinikum Weiden, Weiden, Germany.
Edward M BlairDepartment of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Janice E Brunstrom-HernandezCP Place, PLLC, Plano, Texas, USA.
Johannes A BuckardDepartment of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf, Germany.
David M CassimanMetabolic Center, Leuven University Hospitals and KU Leuven, Leuven, Belgium.
Rosaline CaumesDepartment of Neuropediatrics, Hopital Roger Salengro, Lille, France.
Duccio M CordelliPaediatric Neurology Unit, S. Orsola-Malpighi Hospital, Bologna, Italy.ORCID 0000-0002-1367-6419
Liesbeth M De WaeleDepartment of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
Alexander J FayDepartment of Neurology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA.
Patrick FerreiraDivision of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Nicholas A FletcherDepartment of Neurology, Walton Centre NHS Foundation Trust, Liverpool, UK.
Alan E FryerDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Himanshu GoelHunter Genetics, Hunter New England Local Health District, Waratah, New South Wales, Australia.
Cheryl A HemingwayDepartment of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Marco HennekeDepartment of Pediatrics and Adolescent Medicine, University Medical Center, Georg August University, Göttingen, Germany.
Imelda HughesPediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Rosalind J JeffersonDingley Specialist Children's Centre, Royal Berkshire Hospital, Reading, UK.
Ram KumarDepartment of Paediatric Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Lieven LagaeDepartment of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven, Belgium.
Pierre G LandrieuDepartment of Paediatric Neurology, CHU Paris-Sud Bicetre, Le Kremlin Bicetre, France.
Charles M LourençoNeurogenetics Division, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.ORCID 0000-0002-2296-6098
Timothy J MalpasDepartment of Paediatrics, Jersey General Hospital, St Helier, UK.
Sarju G MehtaEast Anglian Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK.ORCID 0000-0003-0446-3435
Imke MetzDepartment of Neuropathology, University Medical Center, Georg August University, Göttingen, Germany.
Sakkubai NaiduHugo Moser Research Institute, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Neurology and Pediatrics, Baltimore, Maryland, USA.
Katrin ÕunapDepartment of Genetics, Tartu University Hospital, Tartu, Estonia.
Axel PanzerEpilepsy Center/Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin, Germany.
Prab PrabhakarDepartment of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Gerardine QuaghebeurDepartment of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Raphael SchiffmannInstitute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.
Elliott H SherrDepartment of Neurology, University of California at San Francisco, San Francisco, California, USA.
Kanaga R SinnathurayDepartment of Paediatrics, Wexham Park Hospital, Slough, UK.
Calvin SohNeuroradiology Department, Salford Royal NHS Foundation Trust, Salford, UK.
Helen S StewartDepartment of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
John StoneDepartment of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh, UK.
Hilde Van EschCenter for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Christine E G Van MolDepartment of Pediatrics-Neonatology, St. Augustinusziekenhuis, Wilrijk, Belgium.
Adeline VanderverDepartment of Neurology, George Washington University School of Medicine, Children's National Health System, Washington, DC, USA.
Emma L WakelingNorth West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
Andrea WhitneyDepartment of Child Neurology, University Hospital Southampton NHS Trust, Southampton, UK.
Graham D PavittFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, Manchester, UK.
Sam Griffiths-JonesFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, Manchester, UK.
Gillian I RiceFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.ORCID 0000-0002-4223-0571
Patrick RevyLaboratory of Genome Dynamics in the Immune System, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.
Marjo S van der KnaapChild Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, the Netherlands.
John H LivingstonDepartment of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.ORCID 0000-0002-4017-0667
Raymond T O'KeefeFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, Manchester, UK.ORCID 0000-0001-8764-1289
Yanick J CrowFaculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
University of Manchester · GBKU Leuven · BEManchester Academic Health Science Centre · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHôpital Necker-Enfants Malades · FRChurchill Hospital · GBDélégation Paris 5 · FRKennedy Krieger Institute · USSt. Louis Children's Hospital · USUniversity of Bern · CHUniversity of Göttingen · DEUniversity of Liverpool · GBAddenbrooke's Hospital · GBAlberta Children's Hospital · CAAlder Hey Children's NHS Foundation Trust · GBAmsterdam Neuroscience · NLBC Cancer Agency · CABicêtre Hospital · FRChildren's National · USDRK Kliniken Berlin · DE
Funding
Wellcome Trust 097820/Z/11/BWellcome Trust 104981
Abstract
Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. These mutations affect U8 expression, processing and protein binding and thus implicate U8 as essential in cerebral vascular homeostasis.
Indexed as
MutationAdolescentAdultCalcinosisCell LineCerebral Small Vessel DiseasesChildChild, PreschoolChromosomes, Human, Pair 17Cohort StudiesCystsExomeFemaleGenetic LinkageGenome, HumanHumansRNA, Small Nucleolar
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.