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Phenotypes
Original Article
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Authors

  • Margot R F Reijnders Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Robert Janowski Institute of Structural Biology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany PubMed articlesGoogle scholar articles
  • Mohsan Alvi Visual Geometry Group, Department of Engineering Science, University of Oxford, Oxford, UK PubMed articlesGoogle scholar articles
  • Jay E Self Department of Ophthalmology, Southampton General Hospital, Southampton, UK Department of Clinical and Experimental Sciences, School of Medicine, University of Southampton, Southampton, UK PubMed articlesGoogle scholar articles
  • Ton J van Essen Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands PubMed articlesGoogle scholar articles
  • Maaike Vreeburg Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Rob P W Rouhl Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands Academic Center for Epileptology, Kempenhaeghe/MUMC, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Servi J C Stevens Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Alexander P A Stegmann Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Jolanda Schieving Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Rolph Pfundt Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Katinke van Dijk Department of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands PubMed articlesGoogle scholar articles
  • Eric Smeets Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Connie T R M Stumpel Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Levinus A Bok Department of Pediatrics, Máxima Medisch Centrum, Veldhoven, The Netherlands PubMed articlesGoogle scholar articles
  • Jan Maarten Cobben Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Marc Engelen Department of Neurology and Pediatric Neurology, Emma Children’s Hospital/Academic Medical Center, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Sahar Mansour SW Thames Regional Genetics Service, St. George’s University NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Margo Whiteford Department of Clinical Genetics, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK PubMed articlesGoogle scholar articles
  • Kate E Chandler Division 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 PubMed articlesGoogle scholar articles
  • Sofia Douzgou Division 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 PubMed articlesGoogle scholar articles
  • Nicola S Cooper West Midlands Regional Clinical Genetics Service, Birmingham Women’s NHS Foundation Trust, Birmingham, UK PubMed articlesGoogle scholar articles
  • Ene-Choo Tan KK Research Laboratory, KK Women’s and Children’s Hospital, Singapore PubMed articlesGoogle scholar articles
  • Roger Foo National University Health Systems, Cardiovascular Research Institute, Singapore, Singapore Genome Institute of Singapore, Singapore, Singapore PubMed articlesGoogle scholar articles
  • Angeline H M Lai Departmentof Paediatrics, Genetics Service, KK Women’s and Children’s Hospital, Singapore PubMed articlesGoogle scholar articles
  • Julia Rankin Department of Clinical Genetics, Royal Devon and Exeter NHS Trust, Exeter, UK PubMed articlesGoogle scholar articles
  • Andrew Green Department of Clinical Genetics, School of Medicine and Medical Science, Our Lady’s Hospital, University College Dublin, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Tuula Lönnqvist Department of Child Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Pirjo Isohanni Department of Child Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Shelley Williams Department of Pediatric Neurology, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Ilene Ruhoy Division of Pediatric Neurology, Seattle Children’s Hospital/University of Washington, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Karen S Carvalho Department of Pediatrics, Section of Neurology, St. Christopher’s Hospital for Children, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • James J Dowling Division of Neurology and Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Dorit L Lev The Rina Mor Institute of Medical Genetics, Holon, Israel PubMed articlesGoogle scholar articles
  • Katalin Sterbova Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic PubMed articlesGoogle scholar articles
  • Petra Lassuthova Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic PubMed articlesGoogle scholar articles
  • Jana Neupauerová Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic PubMed articlesGoogle scholar articles
  • Jeff L Waugh Department of Neurology, Boston Children’s Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Sotirios Keros Sanford Children’s Hospital, University of South Dakota, Sioux Falls, South Dakota, USA PubMed articlesGoogle scholar articles
  • Jill Clayton-Smith Faculty 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 PubMed articlesGoogle scholar articles
  • Sarah F Smithson Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK PubMed articlesGoogle scholar articles
  • Han G Brunner Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Ceciel van Hoeckel PURA Syndrome Foundation, Tulsa, Oklahoma, USA PubMed articlesGoogle scholar articles
  • Mel Anderson PURA Syndrome Foundation, Tulsa, Oklahoma, USA PubMed articlesGoogle scholar articles
  • Virginia E Clowes North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK PubMed articlesGoogle scholar articles
  • Victoria Mok Siu Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine, University of Western Ontario, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • The DDD study Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK PubMed articlesGoogle scholar articles
  • Paulo Selber Department of Orthopaedics, Royal Children’s Hospital, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Richard J Leventer Department of Neurology, University of Melbourne Department of Paediatrics, The Royal Children’s Hospital, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Christoffer Nellaker Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital Women’s Centre, University of Oxford, Oxford, UK Department of Engineering Science, Institute of Biomedical Engineering, University of Oxford, Oxford, UK PubMed articlesGoogle scholar articles
  • Dierk Niessing Institute of Structural Biology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany Department of Cell Biology, Biomedical Center of the Ludwig-Maximilians-Universität München, Planegg-Martinsried, Germany PubMed articlesGoogle scholar articles
  • David Hunt Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  • Diana Baralle Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Margot R F Reijnders, Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, Netherlands; margot.reijnders{at}radboudumc.nl and Dr Diana Baralle, Human Genetic and Genomics, University of Southampton, Human Development and Health, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK; D.Baralle{at}soton.ac.uk
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Citation

Reijnders MRF, Janowski R, Alvi M, et al
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Journal of Medical Genetics 2018;55:104-113.

Publication history

  • Received July 27, 2017
  • Revised August 29, 2017
  • Accepted September 13, 2017
  • First published November 2, 2017.
Online issue publication 
January 23, 2018

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/