Article Sidebar

PDF (Tiếng Việt)
Published: 2022-03-01
Abstract Views: 662
Views PDF (Tiếng Việt): 741
DOI: https://doi.org/10.52852/tcncyh.v151i3.605
Issue
Vol. 151 No. 3 (2022)
Section
Các bài báo
How to Cite
Thảnh, N. V. ., Phương, Đặng D. ., Phương, L. T. ., Quỳnh, B. T. N. ., Thịnh, T. H. ., & Khánh, T. V. . (2022). Detection of mutations of SCN5A gene in patients with Brugada syndrome. Journal of Medical Research, 151(3), 1-8. https://doi.org/10.52852/tcncyh.v151i3.605

Detection of mutations of SCN5A gene in patients with Brugada syndrome

Nguyen Van Thanh, Dang Duy Phuong, Le Thi Phuong, Bach Thi Nhu Quynh, Tran Huy Thinh, Tran Van Khanh

Main Article Content

Abstract

 Brugada syndrome is the cause of 4 - 12% of sudden deaths and 20% of total deaths among
cardiovascular patients. The main cause of this disease is determined to be hereditary abnormalities
in genes coding for protein Nav1.5, in which mutation of the SCN5A gene accounts for the highest
percentage (approx. 20 - 25%). The objective of this study is to identify mutations in some exons
of the SCN5A gene in patients with Brugada syndrome. Using direct sequencing, exons of the SCN5A genes of 25 patients diagnosed with Brugada syndrome at Vietnamese Heart Institute
were examined for mutation. Of those, 7 patients were found to have mutation in SCN5A gene
with 7 different mutations in exons 9, 16, 17, 23, and 28, in which mutation of exon 28 was most
common (3/7, 42.8%); the remaining patients each has a mutation in exons 9, 16, 17, and 23.
The proportion of missense mutation was 85.7%, whereas that of in-frame mutation was 14.3%.

Article Details

Keywords

Brugada syndrome, SCN5A, mutations

References

1. Antzelevitch C, Yan G-X, Ackerman MJ, et al. J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge. EP Europace. 2017;19(4):665-694. doi: 10.1093/europace/euw235.
2. Kusano KF. Brugada syndrome: Recent understanding of pathophysiological mechanism and treatment. Journal of Arrhythmia. 2013;29(2):77-82. doi: 10.1016/j.joa.2012.12.009.
3. Juang J-MJ, Horie M. Genetics of Brugada syndrome. Journal of Arrhythmia. 2016;32(5):418-425. doi: 10.1016/j.joa.2016.07.012.
4. Wang Q, Li Z, Shen J, Keating MT. Genomic Organization of the HumanSCN5AGene Encoding the Cardiac Sodium Channel. Genomics. 1996;34(1):9-16. doi: 10.1006/geno.1996.0236.
5. NM_198056 - ClinVar - NCBI. Accessed September 9, 2021; https://www.ncbi.nlm.nih.gov/clinvar/?term=NM_198056.
6. Kapplinger JD, Tester DJ, Alders M, et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069.
7. Brugada R, Campuzano O, SarquellaBrugada G, Brugada J, Brugada P. BRUGADA SYNDROME. Methodist Debakey Cardiovasc J. 2014;10(1):25-28.
8. Park HS, Kim YN, Lee YS, et al. Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block. Genomics Inf. 2012;10(2):110-116. doi: 10.5808/GI.2012.10.2.110.