Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant

Autor: O’Neill, Matthew J., Chen, Suet Nee, Rumping, Lynne, Johnson, Renee, van Slegtenhorst, Marjon, Glazer, Andrew M., Yang, Tao, Solus, Joseph F., Laudeman, Julie, Mitchell, Devyn W., Vanags, Loren R., Kroncke, Brett M., Anderson, Katherine, Gao, Shanshan, Verdonschot, Job A.J., Brunner, Han, Hellebrekers, Debby, Taylor, Matthew R.G., Roden, Dan M., Wessels, Marja W., Lekanne Dit Deprez, Ronald H., Fatkin, Diane, Mestroni, Luisa, Shoemaker, M. Benjamin

Publikováno v: In Heart Rhythm August 2023 20(8):1158-1166

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PO-05-178 DECIPHERING THERAPEUTIC RESCUE PATTERNS FOR LONG QT SYNDROME: A COMPREHENSIVE ANALYSIS OF KCNH2 MISSENSE VARIANTS AND THEIR RESPONSE TO CHAPERONE THERAPEUTICS

Autor: Shen, Alex, Egly, Christian, Ullah, Rizwan, Vanags, Loren R., Mitchell, Devyn W., Woo, Suah, Ku, Matthew, Patel, Nidhi, Venumuddala, Aakash, O'Neill, Matthew, Knollmann, Bjorn C., Kroncke, Brett

Publikováno v: In Heart Rhythm May 2024 21(5) Supplement:S575-S575

Assays of Variant Effect and Automated Patch Clamping Improve KCNH2 -LQTS Variant Classification and Cardiac Event Risk Stratification.

Autor: O'Neill MJ; Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN (M.J.O., X.B.)., Ng CA; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia (C.-A.N., Q.S., C.-Y.T., J.I.V.).; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia (C.-A.N., J.I.V.)., Aizawa T; Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Japan (T.A., A.K.)., Sala L; IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.S.).; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Bains S; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Winbo A; Department of Physiology, University of Auckland, New Zealand. (A.W., B.M.K.)., Ullah R; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Shen Q; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia (C.-A.N., Q.S., C.-Y.T., J.I.V.)., Tan CY; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia (C.-A.N., Q.S., C.-Y.T., J.I.V.)., Kozek K; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Vanags LR; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Mitchell DW; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Shen A; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Wada Y; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Kashiwa A; Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Japan (T.A., A.K.)., Crotti L; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.).; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Dagradi F; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Musu G; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Spazzolini C; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Neves R; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Bos JM; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Giudicessi JR; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Bledsoe X; Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN (M.J.O., X.B.)., Gamazon ER; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (E.R.G.)., Lancaster MC; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Glazer AM; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Knollmann BC; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Roden DM; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. (R.U., K.K., L.R.V., D.W.M., A.S., Y.W., L.C., M.C.L., A.M.G., B.C.K., D.M.R.)., Weile J; Department of Medicine and Surgery, University Milano Bicocca, Milan, Italy. Department of Molecular Genetics, University of Toronto, Canada (J.W., F.R.)., Roth F; Department of Medicine and Surgery, University Milano Bicocca, Milan, Italy. Department of Molecular Genetics, University of Toronto, Canada (J.W., F.R.)., Salem JE; Sorbonne University, APHP, INSERM, Clinical Pharmacology, Hopital Pitié-Salpétière Department of Medicine, University of Auckland, New Zealand. (J.-E.S.)., Earle N; Department of Cardiology, Waikato Hospital, Hamilton, New Zealand (N.E., R.S.)., Stiles R; Department of Cardiology, Waikato Hospital, Hamilton, New Zealand (N.E., R.S.)., Agee T; Department of Chemistry, Mississippi State University, Starkville (T.A., C.N.J.)., Johnson CN; Department of Chemistry, Mississippi State University, Starkville (T.A., C.N.J.)., Horie M; Department of Cardiovascular Medicine, Shiga University of Medical Science, Japan (M.H.)., Skinner J; Sydney Children's Hospital Network, University of Sydney, Australia (J.S.)., Ackerman MJ; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (S.B., R.N., J.M.B., J.R.G., M.J.A.)., Schwartz PJ; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (L.S., L.C., F.D., G.M., C.S., P.J.S.)., Ohno S; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan (S.O.)., Vandenberg JI; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia (C.-A.N., Q.S., C.-Y.T., J.I.V.).; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia (C.-A.N., J.I.V.)., Kroncke BM; Department of Physiology, University of Auckland, New Zealand. (A.W., B.M.K.).

Publikováno v: Circulation [Circulation] 2024 Sep 24. Date of Electronic Publication: 2024 Sep 24.