Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome

Shin, Dong Jik; Jang, Yangsoo; Park, Hyun-Young; Lee, Jong Eun; Yang, Keum‐Jin; Kim, Eunmin; Bae, Yoonjung; Kim, Jongmin; Kim, Jeongki; Kim, Sung Soon; Lee, Moon Hyoung; Chahine, Mohamed; Yoon, Sungjoo Kim

doi:10.1007/s10038-004-0182-z

Cited by 17 publications

(10 citation statements)

References 21 publications

(27 reference statements)

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“…Several recent studies have described BS patients with no SCN5A mutations (Smits et al, 2002;Takahata et al, 2003;Shin et al, 2004). These results are consistent with our findings, which provide support for the possibility of genetic heterogeneity in BS (Priori et al, 2000).…”

Section: Discussionsupporting

confidence: 96%

A novel mutation in the SCN5A gene is associated with Brugada syndrome

et al. 2007

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Section: Discussionsupporting

confidence: 96%

A novel mutation in the SCN5A gene is associated with Brugada syndrome

et al. 2007

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“…In our patients with AVB, there were 7 sites of nucleotide change from exon 2 to exon 28 of the SCN5A gene. Among of them, 2 sites (G87A-A29A, IVS9-3C > A) were reported as genetic variations in a Western study [7], and T5457C-D1819D has already been reported as a variation or polymorphism without functional effects on the channel in Asian studies [7, 15, 16]. A1673G-H558R is located in the Na + channel I, II interdomain linker, and previous functional studies have shown that the H558R-encoding minor allele can alter the phenotype of true disease-causing SCN5A mutations [17].…”

Section: Discussionmentioning

confidence: 99%

Genetic Analysis ofSCN5Ain Korean Patients Associated with Atrioventricular Conduction Block

et al. 2012

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Recent several studies have shown that the genetic variation of SCN5A is related with atrioventricular conduction block (AVB); no study has yet been published in Koreans. Therefore, to determine the AVB-associated genetic variation in Korean patients, we investigated the genetic variation of SCN5A in Korean patients with AVB and compared with normal control subjects. We enrolled 113 patients with AVB and 80 normal controls with no cardiac symptoms. DNA was isolated from the peripheral blood, and all exons (exon 2-exon 28) except the untranslated region and exon-intron boundaries of the SCN5A gene were amplified by multiplex PCR and directly sequenced using an ABI PRISM 3100 Genetic Analyzer. When a variation was discovered in genomic DNA from AVB patients, we confirmed whether the same variation existed in the control genomic DNA. In the present study, a total of 7 genetic variations were detected in 113 AVB patients. Of the 7 variations, 5 (G87A-A29A, intervening sequence 9-3C>A, A1673G-H558R, G3578A-R1193Q, and T5457C-D1819D) have been reported in previous studies, and 2 (C48G-F16L and G3048A-T1016T) were novel variations that have not been reported. The 2 newly discovered variations were not found in the 80 normal controls. In addition, G298S, G514C, P1008S, G1406R, and D1595N, identified in other ethnic populations, were not detected in this study. We found 2 novel genetic variations in the SCN5A gene in Korean patients with AVB. However, further functional study might be needed.

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“…These sodium channelopathies play a critical role in the pathogenesis of Brugada syndrome, 4 idiopathic ventricular fibrillation, 5 sudden infant death syndrome, 6 cardiac conduction defects, 7 congenital sick sinus syndrome, 8 atrial fibrillation 9 and overlapping syndrome. 10 Moreover, such genetic variations seem to modify responses to antiarrhythmic drug therapies, and to certain extent, to sensitize patients to the pro-arrhythmic effects of Na + channelblocking anti-arrhythmic agents.…”

Section: Discussionmentioning

confidence: 99%