Key result
A homozygous TRIM63 nonsense mutation (p.Q247X) was identified in a single patient with cardiac hypertrophy, confirming TRIM63 as a cardiac myopathy gene.
Case Report (n=1)
This case report confirms TRIM63 as a gene associated with cardiac myopathy (hypertrophy).
May support TRIM63 testing in unexplained hypertrophy; leaves open validation of prevalence and causality.
TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested. Our case report confirms the role of TRIM63 as a new cardiac myopathy gene, although it is unclear whether the homozygous p.Q247X mutation alone is sufficient to cause an additional skeletal myopathy.
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Jokela et al. (2018) conducted a case report in Cardiac hypertrophy and mild skeletal myopathy (n=1). Homozygous TRIM63 nonsense mutation p.Q247X was evaluated on Cardiac and skeletal myopathy phenotype. A homozygous TRIM63 nonsense mutation (p.Q247X) was identified in a single patient with cardiac hypertrophy, confirming TRIM63 as a cardiac myopathy gene.
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