Key result
Novel LMNA mutation linked to early-onset atrial disease impairs myocardial structure and ECGs in zebrafish.
Why the study?
Genetic mutations in LMNA are linked to cardiomyopathy, with different mutational sites exhibiting different clinical manifestations and prognoses, prompting verification of the pathogenicity of a novel mutation.
Case Report (n=1)
The novel LMNA frameshift mutation p.P485Tfs*67 is associated with early-onset atrial disease and causes abnormal ECG and impaired myocardial structure in a zebrafish model.
Genetic mutations in the lamin A/C gene (LMNA) have been linked to cardiomyopathy. Different mutational sites exhibit different clinical manifestations and prognoses. Herein, we identified a novel LMNA frameshift mutation, p.P485Tfs*67, from a patient with early-onset atrial disease. To verify the pathogenicity of this variation, a transgenic zebrafish model was constructed, which demonstrated that adult zebrafish with the LMNA mutation showed an abnormal ECG and impaired myocardial structure. Our study suggests the atrial pathogenicity of the LMNA-P485Tfs mutation, which is helpful to understand the function of the Ig-like domain of lamin A/C.
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Lin et al. (2021) conducted a case report in Early-onset atrial disease (n=1). LMNA frameshift mutation p.P485Tfs*67 was evaluated on Pathogenicity of the variation (abnormal ECG and impaired myocardial structure). A novel LMNA frameshift mutation (p.P485Tfs*67) identified in a patient with early-onset atrial disease caused abnormal ECG and impaired myocardial structure in a transgenic zebrafish model.
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