Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Zech M1 2 3, Kumar KR4 5, Reining S6, Reunert J6, Tchan M7 8, Riley LG9 10, Drew AP5, Adam RJ11 12, Berutti R1 2 3, Biskup S13, Derive N14, Bakhtiari S15 16, Jin SC17, Kruer MC15 16, Bardakjian T18, Gonzalez-Alegre P18, Keller Sarmiento IJ19, Mencacci NE19, Lubbe SJ19, Kurian MA20 21, Clot F14 22, Méneret A23, de Sainte Agathe JM14 24, Fung VSC25 26, Vidailhet M23, Baumann M27, Marquardt T6, Winkelmann J1 2 3 28 29, Boesch S30
  1. Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  2. Technical University of Munich, Munich, Germany.
  3. School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.
  4. Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.
  5. Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  6. Department of General Paediatrics, University of Münster, Münster, Germany.
  7. Department of Genetic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.
  8. Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.
  9. Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  10. Rare Diseases Functional Genomics, Kids Research, The Children’s Hospital at Westmead and The Children’s Medical Research Institute, Sydney, New South Wales, Australia.
  11. Department of Neurology, Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia.
  12. Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.
  13. CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany.
  14. Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.
  15. Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children’s Hospital, Phoenix, Arizona, USA.
  16. Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.
  17. Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.
  18. Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  19. Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  20. Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  21. Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  22. AP-HP Sorbonne Université, Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.
  23. Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, DMU Neurosciences, Paris, France.
  24. AP-HP Sorbonne Université, Laboratoire de Médecine Génomique, Hôpital Pitié-Salpêtrière, Paris, France.
  25. Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.
  26. Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  27. Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
  28. Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.
  29. Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
  30. Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.