Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Circ Res. 2014 Jan 17;114(2):e2-5. doi: 10.1161/CIRCRESAHA.114.302662.

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.

Keywords: TRIM63 protein, human; cardiomyopathy, hypertrophic.

Publication types

  • Comment

MeSH terms

  • Animals
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / metabolism*
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Muscle Proteins / genetics*
  • Muscle Proteins / metabolism*
  • Mutation, Missense / genetics*
  • Ubiquitin-Protein Ligases / genetics*
  • Ubiquitin-Protein Ligases / metabolism*

Substances

  • Muscle Proteins
  • Ubiquitin-Protein Ligases