Key result
The titin p.R2021X truncation mutation causes highly penetrant familial LVNC.
Why the study?
The study investigated the potential pathogenic mechanism of a mutation in a pedigree with LVNC using functional studies.
Does the p.R2021X titin truncation mutation cause familial left ventricular noncompaction?
Does the p.R2021X titin truncation mutation cause familial left ventricular noncompaction?
The identification of the p.R2021X titin truncation mutation as a cause of familial LVNC expands the spectrum of titin's roles in cardiomyopathies.
Animal model links titin truncation to penetrant LVNC; leaves open human validation and clinical relevance.
BACKGROUND: mutation in a pedigree with LVNC and investigated the potential pathogenic mechanism by functional studies. METHODS: , in which functional studies were carried out and characterized in comparison to its wild-type counterpart. RESULTS: p. R2021X truncation mutation cardiomyocytes. CONCLUSIONS: p. R2021X mutation has a function in the cause of a highly penetrant familial LVNC. These findings expand the spectrum of titin's roles in cardiomyopathies and provide novel insight into the molecular basis of titin-truncating variants-associated LVNC.
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Dong et al. (2022) studied Left ventricular noncompaction (LVNC). p.R2021X truncation mutation in titin vs. Wild-type counterpart was evaluated on Pathogenic mechanism and functional characterization. The p.R2021X truncation mutation in titin functions as a cause of highly penetrant familial left ventricular noncompaction.
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