Open Access

Novel SCN5A frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead

  • Authors:
    • Xiaoqian Zhou
    • Lan Ren
    • Jian Huang
    • Yinhui Zhang
    • Ying Cai
    • Jielin Pu
  • View Affiliations

  • Published online on: May 2, 2023     https://doi.org/10.3892/etm.2023.11986
  • Article Number: 287
  • Copyright: © Zhou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Mutations in the SCN5A gene has been recognized as resulting in a series of life‑threatening arrhythmias. However, it also causes idiopathic ventricular fibrillation (IVF) with J wave in inferior leads and prolonged S‑wave upstroke in precordial leads, which has not been previously reported. The present study aimed to study the mechanisms of a patient with IVF manifested with J wave in inferior leads and prolonged S‑wave upstroke in precordial leads. The electrocardiograms (ECG) of the proband were recorded and genetic testing was conducted. Patch‑clamp and immunocytochemical studies were performed in heterologously transfected 293 cells. The VF attacks was documented in a 55‑year‑old male proband with syncope episodes. 12‑lead ECG shown the transient J wave in the inferior leads and prolonged S‑wave upstroke in precordial V1‑V3 leads in the same timeframe. Genetic analysis revealed a novel 1 base deletion (G) at position 839 in exon 2 in SCN5A gene (C280S*fs61), which causes a severe truncation of the sodium channel. The functional study revealed that in 293 cells transfected with mutant channel, no sodium current could be recorded even though the immunocytochemical experiment confirmed the truncated sodium channel existed in cytosol. The kinetics of the wild‑type (WT) channel were not altered when co‑transfected with C280S*fs61 mutant which suggested a haploinsufficiency effect of sodium channel in the cells. The present study identified a novel C280Sfs*61 mutation that caused the ‘loss of function’ of the sodium channel by haploinsufficiency mechanism. The reduced sodium channel function in the heart may cause conduction delay that may underlie the manifestation of J wave and prolonged S‑wave upstroke associated with IVF.
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June-2023
Volume 25 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Zhou X, Ren L, Huang J, Zhang Y, Cai Y and Pu J: Novel <em>SCN5A</em> frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead. Exp Ther Med 25: 287, 2023.
APA
Zhou, X., Ren, L., Huang, J., Zhang, Y., Cai, Y., & Pu, J. (2023). Novel <em>SCN5A</em> frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead. Experimental and Therapeutic Medicine, 25, 287. https://doi.org/10.3892/etm.2023.11986
MLA
Zhou, X., Ren, L., Huang, J., Zhang, Y., Cai, Y., Pu, J."Novel <em>SCN5A</em> frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead". Experimental and Therapeutic Medicine 25.6 (2023): 287.
Chicago
Zhou, X., Ren, L., Huang, J., Zhang, Y., Cai, Y., Pu, J."Novel <em>SCN5A</em> frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead". Experimental and Therapeutic Medicine 25, no. 6 (2023): 287. https://doi.org/10.3892/etm.2023.11986