Rafal Ploski1, Agnieszka Pollak, Sonja Müller, Maria Franaszczyk, Ewa Michalak, Joanna Kosinska, Piotr Stawinski, Mateusz Spiewak, Hubert Seggewiss, Zofia T Bilinska. 1. From the Department of Medical Genetics (R.P., J.K.) and Department of Immunology, Center for Biostructure Research (P.S.), Medical University of Warsaw, Warsaw, Poland; Institute of Physiology and Pathology of Hearing, Warsaw, Poland (A.P.); Medizinische Klinik 1, Leopoldina Krankenhaus, Schweinfurt, Germany (S.M., H.S.); and Laboratory of Molecular Biology (M.F.), Unit for Screening Studies in Inherited Cardiovascular Diseases (E.M., Z.T.B.), and Cardiac Magnetic Resonance Unit (M.S.), Institute of Cardiology, Warsaw, Poland.
Abstract
RATIONALE: Variants in TRIM63, including a nonsense mutation (p.Q247X), have been suggested recently to cause hypertrophic cardiomyopathy. OBJECTIVE: To verify pathogenicity of TRIM63 p.Q247X detected by whole-exome sequencing in a symptomless professional sports player seeking medical advice because of a prolonged QT interval found during a routine check-up. METHODS AND RESULTS: Clinical studies were performed in the proband and his mother, who also carried TRIM63 p.Q247X. No evidence of hypertrophic cardiomyopathy was found in either person. CONCLUSIONS: The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy.
RATIONALE: Variants in TRIM63, including a nonsense mutation (p.Q247X), have been suggested recently to cause hypertrophic cardiomyopathy. OBJECTIVE: To verify pathogenicity of TRIM63p.Q247X detected by whole-exome sequencing in a symptomless professional sports player seeking medical advice because of a prolonged QT interval found during a routine check-up. METHODS AND RESULTS: Clinical studies were performed in the proband and his mother, who also carried TRIM63p.Q247X. No evidence of hypertrophic cardiomyopathy was found in either person. CONCLUSIONS: The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy.
Authors: Katharina Danhauser; Bader Alhaddad; Christine Makowski; Dorota Piekutowska-Abramczuk; Steffen Syrbe; Natalia Gomez-Ospina; Melanie A Manning; Anna Kostera-Pruszczyk; Claudia Krahn-Peper; Riccardo Berutti; Reka Kovács-Nagy; Mirjana Gusic; Elisabeth Graf; Lucia Laugwitz; Michaela Röblitz; Andreas Wroblewski; Hans Hartmann; Anibh M Das; Eva Bültmann; Fang Fang; Manting Xu; Ulrich A Schatz; Daniela Karall; Herta Zellner; Edda Haberlandt; René G Feichtinger; Johannes A Mayr; Thomas Meitinger; Holger Prokisch; Tim M Strom; Rafał Płoski; Georg F Hoffmann; Maciej Pronicki; Penelope E Bonnen; Susanne Morlot; Tobias B Haack Journal: Am J Hum Genet Date: 2018-10-25 Impact factor: 11.025
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Authors: Dorota Piekutowska-Abramczuk; Beata Kocyła-Karczmarewicz; Maja Małkowska; Sylwia Łuczak; Katarzyna Iwanicka-Pronicka; Stephanie Siegmund; Hua Yang; Quan Wen; Quan V Hoang; Ronald H Silverman; Paweł Kowalski; Olga Szczypińska; Kamila Czornak; Janusz Zimowski; Rafał Płoski; Jacek Pilch; Elżbieta Ciara; Jacek Zaremba; Małgorzata Krajewska-Walasek; Eric A Schon; Ewa Pronicka Journal: JIMD Rep Date: 2015-10-02
Authors: Raphael Carapito; Ekaterina L Ivanova; Aurore Morlon; Linyan Meng; Anne Molitor; Eva Erdmann; Bruno Kieffer; Angélique Pichot; Lydie Naegely; Aline Kolmer; Nicodème Paul; Antoine Hanauer; Frédéric Tran Mau-Them; Nolwenn Jean-Marçais; Susan M Hiatt; Gregory M Cooper; Tatiana Tvrdik; Alison M Muir; Clémantine Dimartino; Maya Chopra; Jeanne Amiel; Christopher T Gordon; Fabien Dutreux; Aurore Garde; Christel Thauvin-Robinet; Xia Wang; Magalie S Leduc; Meredith Phillips; Heather P Crawford; Mary K Kukolich; David Hunt; Victoria Harrison; Mira Kharbanda; Robert Smigiel; Nina Gold; Christina Y Hung; David H Viskochil; Sarah L Dugan; Pinar Bayrak-Toydemir; Géraldine Joly-Helas; Anne-Marie Guerrot; Caroline Schluth-Bolard; Marlène Rio; Ingrid M Wentzensen; Kirsty McWalter; Rhonda E Schnur; Andrea M Lewis; Seema R Lalani; Noël Mensah-Bonsu; Jocelyn Céraline; Zijie Sun; Rafal Ploski; Carlos A Bacino; Heather C Mefford; Laurence Faivre; Olaf Bodamer; Jamel Chelly; Bertrand Isidor; Seiamak Bahram Journal: Am J Hum Genet Date: 2019-01-10 Impact factor: 11.025
Authors: Laura S Kremer; Katharina Danhauser; Diran Herebian; Danijela Petkovic Ramadža; Dorota Piekutowska-Abramczuk; Annette Seibt; Wolfgang Müller-Felber; Tobias B Haack; Rafał Płoski; Klaus Lohmeier; Dominik Schneider; Dirk Klee; Dariusz Rokicki; Ertan Mayatepek; Tim M Strom; Thomas Meitinger; Thomas Klopstock; Ewa Pronicka; Johannes A Mayr; Ivo Baric; Felix Distelmaier; Holger Prokisch Journal: Am J Hum Genet Date: 2016-09-08 Impact factor: 11.025