ReviewJournal of medical genetics2018
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
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In one paragraph
Review in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 3 of them syntheses that pooled it.
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58citing papers in PubMed, 3 pooled it
2.7field-weighted citation impact, top 8% of its field
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Who cites it
58 citing papers in PubMed, 3 syntheses or guidelines pooled it, 99 citations in OpenAlex.
- Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.International journal of molecular sciences · 2023Pooled it
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Article
- Article
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Exaggerated Startle - A Diagnostic Clue for PURA Syndrome.Indian journal of pediatrics · 2026Article
- Ophthalmic Findings in a Child with Purine-Rich Element Binding Protein A (PURA)-Related Neurodevelopmental Disorder: A Case Report.Korean journal of ophthalmology : KJO · 2026Article
- Review
- Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers.Journal of neurology · 2026Article
- Case Report: Neonatal PURA syndrome caused by a novel c.463C>G (p.Tyr155Ter) mutation.Frontiers in pediatrics · 2026Article
- PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77Journal of medical genetics · 2025Article
- Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.Journal of inherited metabolic disease · 2025Review
- A Colombian Boy with a Novel de novoMolecular syndromology · 2025Article
- Incidence of hip problems in developmental central hypotonia: A scoping review.Developmental medicine and child neurology · 2025Article
- Autophosphorylation of the Tousled-like kinases TLK1 and TLK2 regulates recruitment to damaged chromatin via PCNA interaction.Nucleic acids research · 2025Article
- Advances in genetic developmental and epileptic encephalopathies with movement disorders.Acta epileptologica · 2025Review
- PURA syndrome-a genetic cause of a neurodevelopmental disorder-case report.Frontiers in pediatrics · 2025Article
- NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia.Medical journal, Armed Forces India · 2024Article
Corrections and comments
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Authors and funding
53 authors at 20 institutions in 11 countries.
Margot R F ReijndersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Robert JanowskiInstitute of Structural Biology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Mohsan AlviVisual Geometry Group, Department of Engineering Science, University of Oxford, Oxford, UK.
Jay E SelfDepartment of Ophthalmology, Southampton General Hospital, Southampton, UK.
Ton J van EssenDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Maaike VreeburgDepartment of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands.
Rob P W RouhlDepartment of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
Servi J C StevensDepartment of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands.
Alexander P A StegmannDepartment of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands.
Jolanda SchievingDepartment of Pediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Rolph PfundtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Katinke van DijkDepartment of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands.
Eric SmeetsDepartment of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands.
Connie T R M StumpelDepartment of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands.
Levinus A BokDepartment of Pediatrics, Máxima Medisch Centrum, Veldhoven, The Netherlands.
Jan Maarten CobbenDepartment of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Marc EngelenDepartment of Neurology and Pediatric Neurology, Emma Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands.
Sahar MansourSW Thames Regional Genetics Service, St. George's University NHS Foundation Trust, London, UK.
Margo WhitefordDepartment of Clinical Genetics, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.
Kate E ChandlerDivision of Evolution and Genomic Sciences, School of Biological Sciences, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Sofia DouzgouDivision of Evolution and Genomic Sciences, School of Biological Sciences, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Nicola S CooperWest Midlands Regional Clinical Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Ene-Choo TanKK Research Laboratory, KK Women's and Children's Hospital, Singapore.
Roger FooNational University Health Systems, Cardiovascular Research Institute, Singapore, Singapore.
Angeline H M LaiDepartmentof Paediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore.
Julia RankinDepartment of Clinical Genetics, Royal Devon and Exeter NHS Trust, Exeter, UK.
Andrew GreenDepartment of Clinical Genetics, School of Medicine and Medical Science, Our Lady's Hospital, University College Dublin, Dublin, Ireland.
Tuula LönnqvistDepartment of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Pirjo IsohanniDepartment of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Shelley WilliamsDepartment of Pediatric Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA.
Ilene RuhoyDivision of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, Washington, USA.
Karen S CarvalhoDepartment of Pediatrics, Section of Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.
James J DowlingDivision of Neurology and Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Dorit L LevThe Rina Mor Institute of Medical Genetics, Holon, Israel.
Katalin SterbovaDepartment of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Petra LassuthovaDepartment of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Jana NeupauerováDepartment of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Jeff L WaughDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Sotirios KerosSanford Children's Hospital, University of South Dakota, Sioux Falls, South Dakota, USA.
Jill Clayton-SmithFaculty of Medical and Human Sciences, Institute of Evolution, Systems and Genomics, University of Manchester, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Sarah F SmithsonDepartment of Clinical Genetics, University Hospitals Bristol, Bristol, UK.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Ceciel van HoeckelPURA Syndrome Foundation, Tulsa, Oklahoma, USA.
Mel AndersonPURA Syndrome Foundation, Tulsa, Oklahoma, USA.
Virginia E ClowesNorth West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK.
Victoria Mok SiuDivision of Medical Genetics, Department of Pediatrics, Schulich School of Medicine, University of Western Ontario, London, Ontario, Canada.
The Ddd StudyWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Paulo SelberDepartment of Orthopaedics, Royal Children's Hospital, Melbourne, Victoria, Australia.
Richard J LeventerDepartment of Neurology, University of Melbourne Department of Paediatrics, The Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Christoffer NellakerBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
Dierk NiessingInstitute of Structural Biology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
David HuntDepartment of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
Diana BaralleDepartment of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
Maastricht University · NLCharles University · CZAcademic Medical Center · NLHelmholtz Zentrum München · DEKK Women's and Children's Hospital · SGRadboud University Medical Center · NLRadboud University Nijmegen · NLRome Foundation · USUniversity of Helsinki · FIUniversity of Southampton · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBBoston Children's Hospital · USChildren's Hospital of Pittsburgh · USHolon Institute of Technology · ILHospital for Sick Children · CAJohn Radcliffe Hospital · GBLondon North West Healthcare NHS Trust · GBManchester Academic Health Science Centre · GBMáxima Medisch Centrum · NLMurdoch Children's Research Institute · AU
Funding
Department of Health RP-2016-07-011Medical Research Council MR/M01326X/1Medical Research Council MR/M014568/1Wellcome Trust
Abstract
backgroundDe novo mutations in
objectivesTo delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations.
methodsDiagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of
resultsWe report mutations in
conclusionWe delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and disease severity.
Indexed as
MutationDNA-Binding ProteinsDrosophila ProteinsEye AbnormalitiesFaceFemaleGenetic Association StudiesHumansInfant, NewbornIntellectual DisabilityMuscle HypotoniaPregnancyStructural Homology, ProteinSyndromeTranscription FactorsDNA-Binding ProteinsDrosophila ProteinsPur-alpha protein, DrosophilaPURA protein, humanTranscription Factorsepilepsy and seizureshypotoniaintellectual disabilityneonatal problemsPURA syndrome
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
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Registered trials
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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.