Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

Author:

Płoski Rafał1,Pollak Agnieszka1,Müller Sonja1,Franaszczyk Maria1,Michalak Ewa1,Kosinska Joanna1,Stawinski Piotr1,Spiewak Mateusz1,Seggewiss Hubert1,Bilinska Zofia T.1

Affiliation:

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...

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine,Physiology

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