Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan

Jyh Ming Jimmy Juang, Chia Ti Tsai, Lian Yu Lin, Yen Bin Liu, Chih Chieh Yu, Juey Jen Hwang, Jien Jiun Chen, Fu Chun Chiu, Wen Jone Chen, Chuen Den Tseng, Fu Tien Chiang, Huei Ming Yeh, Shih Fan Sherri Yeh, Ling Ping Lai, Jiunn Lee Lin

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Brugada syndrome (BrS) is a hereditable sudden cardiac death (SCD). Mutationsin the SCN5A gene (the most common BrS-causing gene) are responsible for 20-25% of this disease in Caucasian populations. However, the prevalence of SCN5A mutations inpatientswith BrS in the Chinese Han population in Taiwan remains unknown. Therefore, in this study, we investigated the prevalence of the SCN5A mutation in the largest BrS cohort in Taiwan. Methods: We consecutively enrolled 47 unrelated patients with BrS from medical centers and hospitals in Taiwan between 2000 and 2010. Mutations within all the 27 translated exons, and exon-intron boundaries of the SCN5A-encoded cardiac sodium channel were screened in all patients with BrS using direct sequencing. A total of 500 unrelated healthy volunteers with a normal electrocardiogram were genotyped as a control group. Results: SCN5A genetic variants were identified in 14 of the 47 patients with BrS and four of the 14 patients with BrS had missense mutations (1651 G>A, 1776 C>G, 3578 G>A). The prevalence rate of SCN5A mutations was approximately 8% (4/47), which was significantly lower than that reported in Caucasian populations (20-25%; p=0.0007). The average age of these 14 BrS patients with SCN5A variants at diagnosis (12 men and 2 women) was 40±13 years. Four patients experienced SCD, and six presented with seizure or syncope. Only three patients (3/14, 21.4%) had a family history of SCD. Conclusion: The prevalence of SCN5A mutations in the Chinese Han population in Taiwan may be lower than that reported in the Caucasian populations. In addition, most patients with BrS did not have a family history of SCD.

Original languageEnglish
Pages (from-to)620-626
Number of pages7
JournalJournal of the Formosan Medical Association
Volume114
Issue number7
DOIs
Publication statusPublished - Jan 1 2015
Externally publishedYes

Fingerprint

Brugada Syndrome
Taiwan
Mutation
Sudden Cardiac Death
Population
Exons
Sodium Channels
Syncope
Mutation Rate
Missense Mutation
Introns
Genes
Healthy Volunteers
Electrocardiography
Seizures
Cross-Sectional Studies

Keywords

  • Brugada syndrome
  • SCN5A mutations
  • Sodium channel
  • Taiwan

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan. / Juang, Jyh Ming Jimmy; Tsai, Chia Ti; Lin, Lian Yu; Liu, Yen Bin; Yu, Chih Chieh; Hwang, Juey Jen; Chen, Jien Jiun; Chiu, Fu Chun; Chen, Wen Jone; Tseng, Chuen Den; Chiang, Fu Tien; Yeh, Huei Ming; Sherri Yeh, Shih Fan; Lai, Ling Ping; Lin, Jiunn Lee.

In: Journal of the Formosan Medical Association, Vol. 114, No. 7, 01.01.2015, p. 620-626.

Research output: Contribution to journalArticle

Juang, JMJ, Tsai, CT, Lin, LY, Liu, YB, Yu, CC, Hwang, JJ, Chen, JJ, Chiu, FC, Chen, WJ, Tseng, CD, Chiang, FT, Yeh, HM, Sherri Yeh, SF, Lai, LP & Lin, JL 2015, 'Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan', Journal of the Formosan Medical Association, vol. 114, no. 7, pp. 620-626. https://doi.org/10.1016/j.jfma.2013.02.002
Juang, Jyh Ming Jimmy ; Tsai, Chia Ti ; Lin, Lian Yu ; Liu, Yen Bin ; Yu, Chih Chieh ; Hwang, Juey Jen ; Chen, Jien Jiun ; Chiu, Fu Chun ; Chen, Wen Jone ; Tseng, Chuen Den ; Chiang, Fu Tien ; Yeh, Huei Ming ; Sherri Yeh, Shih Fan ; Lai, Ling Ping ; Lin, Jiunn Lee. / Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan. In: Journal of the Formosan Medical Association. 2015 ; Vol. 114, No. 7. pp. 620-626.
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abstract = "Brugada syndrome (BrS) is a hereditable sudden cardiac death (SCD). Mutationsin the SCN5A gene (the most common BrS-causing gene) are responsible for 20-25{\%} of this disease in Caucasian populations. However, the prevalence of SCN5A mutations inpatientswith BrS in the Chinese Han population in Taiwan remains unknown. Therefore, in this study, we investigated the prevalence of the SCN5A mutation in the largest BrS cohort in Taiwan. Methods: We consecutively enrolled 47 unrelated patients with BrS from medical centers and hospitals in Taiwan between 2000 and 2010. Mutations within all the 27 translated exons, and exon-intron boundaries of the SCN5A-encoded cardiac sodium channel were screened in all patients with BrS using direct sequencing. A total of 500 unrelated healthy volunteers with a normal electrocardiogram were genotyped as a control group. Results: SCN5A genetic variants were identified in 14 of the 47 patients with BrS and four of the 14 patients with BrS had missense mutations (1651 G>A, 1776 C>G, 3578 G>A). The prevalence rate of SCN5A mutations was approximately 8{\%} (4/47), which was significantly lower than that reported in Caucasian populations (20-25{\%}; p=0.0007). The average age of these 14 BrS patients with SCN5A variants at diagnosis (12 men and 2 women) was 40±13 years. Four patients experienced SCD, and six presented with seizure or syncope. Only three patients (3/14, 21.4{\%}) had a family history of SCD. Conclusion: The prevalence of SCN5A mutations in the Chinese Han population in Taiwan may be lower than that reported in the Caucasian populations. In addition, most patients with BrS did not have a family history of SCD.",
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AU - Tsai, Chia Ti

AU - Lin, Lian Yu

AU - Liu, Yen Bin

AU - Yu, Chih Chieh

AU - Hwang, Juey Jen

AU - Chen, Jien Jiun

AU - Chiu, Fu Chun

AU - Chen, Wen Jone

AU - Tseng, Chuen Den

AU - Chiang, Fu Tien

AU - Yeh, Huei Ming

AU - Sherri Yeh, Shih Fan

AU - Lai, Ling Ping

AU - Lin, Jiunn Lee

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AB - Brugada syndrome (BrS) is a hereditable sudden cardiac death (SCD). Mutationsin the SCN5A gene (the most common BrS-causing gene) are responsible for 20-25% of this disease in Caucasian populations. However, the prevalence of SCN5A mutations inpatientswith BrS in the Chinese Han population in Taiwan remains unknown. Therefore, in this study, we investigated the prevalence of the SCN5A mutation in the largest BrS cohort in Taiwan. Methods: We consecutively enrolled 47 unrelated patients with BrS from medical centers and hospitals in Taiwan between 2000 and 2010. Mutations within all the 27 translated exons, and exon-intron boundaries of the SCN5A-encoded cardiac sodium channel were screened in all patients with BrS using direct sequencing. A total of 500 unrelated healthy volunteers with a normal electrocardiogram were genotyped as a control group. Results: SCN5A genetic variants were identified in 14 of the 47 patients with BrS and four of the 14 patients with BrS had missense mutations (1651 G>A, 1776 C>G, 3578 G>A). The prevalence rate of SCN5A mutations was approximately 8% (4/47), which was significantly lower than that reported in Caucasian populations (20-25%; p=0.0007). The average age of these 14 BrS patients with SCN5A variants at diagnosis (12 men and 2 women) was 40±13 years. Four patients experienced SCD, and six presented with seizure or syncope. Only three patients (3/14, 21.4%) had a family history of SCD. Conclusion: The prevalence of SCN5A mutations in the Chinese Han population in Taiwan may be lower than that reported in the Caucasian populations. In addition, most patients with BrS did not have a family history of SCD.

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