ArticleInternational journal of molecular medicine2016
A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome.
Article in International journal of molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 15 citations in OpenAlex.
- Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.International journal of molecular sciences · 2024Review
- Spiked Helmet Sign: An Uncommon Electrocardiographic Marker.Reviews in cardiovascular medicine · 2023Review
- NovelExperimental and therapeutic medicine · 2023Article
- Early repolarization pattern associated with coronary artery disease and increased the risk of cardiac death in acute myocardium infarction.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2020Article
- SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.Journal of cellular and molecular medicine · 2018Article
- Dysfunctional Nav1.5 channels due to SCN5A mutations.Experimental biology and medicine (Maywood, N.J.) · 2018Review
- Genetic analysis of sick sinus syndrome in a family harboring compound CACNA1C and TTN mutations.Molecular medicine reports · 2018Article
- A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study.PloS one · 2017Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several genetic variants have been associated with early repolarization syndrome (ERS). However, the lack of functional validations of the mutant effects has limited the interpretation of genetic tests. In the present study, we identified and characterized a novel sodium channel, voltage gated, type V alpha subunit (SCN5A) mutation that was associated with ERS. A 67-year-old male proband suffering from recurrent syncope underwent a documented electrocardiogram (ECG) for polymorphic ventricular tachycardia (VT). It was noted that baseline 12-lead ECG exhibited a predominantly elevated ST-segment which mimicked acute myocardial ischemia in lead V2-V6, and the ECG also demonstrated J waves in lead Ⅱ, Ⅲ, aVF and V2-V6. Using genetic analysis, we noted that the proband carried a novel heterozygous missense mutation of A1055G in the SCN5A gene. Whole-cell configuration of patch-clamp analysis revealed that the mutation significantly decreased peak sodium current (INa) density and shifted the steady-state inactivation curve of INa to a more negative potential. Confocal imaging suggested that in the mutant channel a defect of protein expression both on the cell membrane and in cytoplasm was present. The present study demonstrated that a novel heterozygous missense mutation of A1055G in SCN5A led to 'loss-of function' of the sodium channels, and we suggest that it accounts for the arrhythmogenic characteristics of ERS.
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