title: Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
abstract: BACKGROUND
  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.
  
  
  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.
authors.affiliation: 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.
authors.forename: Rafal
authors.initials: R
authors.lastname: Ploski
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Pollak
authors.forename: Sonja
authors.initials: S
authors.lastname: Müller
authors.forename: Maria
authors.initials: M
authors.lastname: Franaszczyk
authors.forename: Ewa
authors.initials: E
authors.lastname: Michalak
authors.forename: Joanna
authors.initials: J
authors.lastname: Kosinska
authors.forename: Piotr
authors.initials: P
authors.lastname: Stawinski
authors.forename: Mateusz
authors.initials: M
authors.lastname: Spiewak
authors.forename: Hubert
authors.initials: H
authors.lastname: Seggewiss
authors.forename: Zofia T
authors.initials: ZT
authors.lastname: Bilinska
mesh_terms: D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism*; D020125:Mutation, Missense / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000378:metabolism*
chemical_list: D009124:Muscle Proteins; D044767:Ubiquitin-Protein Ligases
keywords: TRIM63 protein, human; cardiomyopathy, hypertrophic