Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24436435.
- Also identified by DOI 10.1161/CIRCRESAHA.114.302662.
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Abstract
Variants in TRIM63, including a nonsense mutation (p.Q247X), have been suggested recently to cause hypertrophic cardiomyopathy. 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. 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. The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy.
Medical subject headings
- Cardiomyopathy, Hypertrophic
- Gene Deletion
- Muscle Proteins
- Mutation, Missense
- Ubiquitin-Protein Ligases