Key result
TRIM63 p.Q247X variant shows no evidence of being a highly penetrant cause of HCM.
Why the study?
Does the TRIM63 p.Q247X variant cause highly penetrant hypertrophic cardiomyopathy?
Case Report (n=2)
Does the TRIM63 p.Q247X variant cause highly penetrant hypertrophic cardiomyopathy?
The TRIM63 p.Q247X variant is unlikely to be a highly penetrant cause of hypertrophic cardiomyopathy, challenging recent suggestions of its pathogenicity.
Answers are grounded in this paper and cite their sources.
TRIM63 p.Q247X carriers lacked HCM; challenges prior pathogenicity claims and leaves variant interpretation open for larger studies.
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.
No takes yet. Share an insight, caveat, or question.
Płoski et al. (2014) conducted a case report in Hypertrophic cardiomyopathy (n=2). TRIM63 p.Q247X variant was evaluated on Evidence of hypertrophic cardiomyopathy. The TRIM63 p.Q247X variant showed no evidence of causing hypertrophic cardiomyopathy in two carriers, suggesting it is not a highly penetrant causal variant.
Synapse has enriched 10 related papers. Consider them for comparative context: