Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.

Autor: Park J; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Reilaender A; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Petry-Schmelzer JN; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Stöbe P; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Cordts I; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Harmuth F; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Rautenberg M; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Woerz SE; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Demidov G; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Sturm M; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Schwaibold EMC; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Wunderlich G; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Paus S; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Saft C; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany., Haack TB; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.

Publikováno v: Neurology. Genetics [Neurol Genet] 2021 Dec 07; Vol. 8 (1), pp. e644. Date of Electronic Publication: 2021 Dec 07 (Print Publication: 2022).