B1 Vertaisarvioimaton kirjoitus tieteellisessä lehdessä
Homozygous Nonsense Mutation pQ274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy
Tekijät: Jokela Manu, Baumann Peter, Huovinen Sanna, Penttilä Sini, Udd Bjarne
Kustantaja: IOS Press
Julkaisuvuosi: 2019
Journal: Journal of Neuromuscular Diseases
Tietokannassa oleva lehden nimi: Journal of neuromuscular diseases
Lehden akronyymi: J Neuromuscul Dis
Vuosikerta: 6
Numero: 1
Aloitussivu: 143
Lopetussivu: 146
DOI: https://doi.org/10.3233/JND-180350
Tiivistelmä
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.
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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