Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

Author:

Donkervoort Sandra1ORCID,Mohassel Payam1,Laugwitz Lucia23,Zaki Maha S.4,Kamsteeg Erik‐Jan5,Maroofian Reza6,Chao Katherine R.7,Verschuuren‐Bemelmans Corien C.8,Horber Veronka3,Fock Annemarie J. M.9,McCarty Riley M.1,Jain Minal S.10,Biancavilla Victoria10,McMacken Grace11,Nalls Matthew1,Voermans Nicol C.12,Elbendary Hasnaa M.4,Snyder Molly13,Cai Chunyu14,Lehky Tanya J.15,Stanley Valentina1617,Iannaccone Susan T.18,Foley A. Reghan1,Lochmüller Hanns192021,Gleeson Joseph1617,Houlden Henry6,Haack Tobias B.2,Horvath Rita22,Bönnemann Carsten G.1

Affiliation:

1. Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA

2. Institute of Medical Genetics and Applied Genomics, University of Tübingen Tübingen Germany

3. Department of Paediatric Neurology University Children's Hospital Tübingen Germany

4. Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt

5. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

6. Department of Neuromuscular Disorders University College London Institute of Neurology London UK

7. Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Cambridge Massachusetts USA

8. Department of Genetics University of Groningen, University Medical Center Groningen Groningen The Netherlands

9. Department of Neurology University of Groningen, University Medical Center Groningen Groningen The Netherlands

10. Rehabilitation Medicine Department, Clinical Research Center, National Institutes of Health Bethesda Maryland USA

11. Department of Neurosciences Royal Victoria Hospital Belfast UK

12. Department of Neurology Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre Nijmegen The Netherlands

13. Department of Neurology Children's Health Dallas Texas USA

14. Department of Pathology UT Southwestern Medical Center Dallas Texas USA

15. EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA

16. Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California San Diego California USA

17. Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego California USA

18. Department of Pediatrics UT Southwestern Medical Center Dallas Texas USA

19. Department of Neuropediatrics and Muscle Disorders Medical Center – University of Freiburg, Faculty of Medicine Freiburg Germany

20. Children's Hospital of Eastern Ontario Research Institute, University of Ottawa Ottawa Ontario Canada

21. Division of Neurology, Department of Medicine The Ottawa Hospital Ottawa Ontario Canada

22. Department of Clinical Neurosciences University of Cambridge Cambridge UK

Funder

European Research Council

Medical Research Council Canada

National Human Genome Research Institute

Newton Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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