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

 Dong-Jik Shin  ;  Yangsoo Jang  ;  Sungjoo Kim Yoon  ;  Mohamed Chahine  ;  Moon Hyoung Lee  ;  Sung Soon Kim  ;  Jeongki Kim  ;  Jongmin Kim  ;  Yoonjung Bae  ;  Eunmin Kim  ;  Keumjin Yang  ;  Jong Eun Lee  ;  Hyun-Young Park 
 Journal of Human Genetics, Vol.49(10) : 573-578, 2004 
Journal Title
 Journal of Human Genetics 
Issue Date
Base Sequence ; Bundle-Branch Block/genetics* ; DNA Primers ; Female ; Humans ; Korea ; Male ; NAV1.5 Voltage-Gated Sodium Channel ; Sodium Channels/genetics*
The SCN5A gene encodes the alpha subunit of the human cardiac voltage-gated sodium channel. Mutations in SCN5A are responsible for Brugada syndrome, an inherited cardiac disease that leads to idiopathic ventricular fibrillation (IVF) and sudden death. In this study, we screened nine individuals from a single family and 12 sporadic patients who were clinically diagnosed with Brugada syndrome. Using PCR-SSCP, DHPLC, and DNA sequencing analysis, we identified a novel single missense mutation associated with Brugada syndrome in the family and detected a C5607T polymorphism in Korean subjects. A single nucleotide substitution of G to A at nucleotide position 3934 changed the coding sense of exon 21 of the SCN5A from glycine to serine (G1262S) in segment 2 of domain III (DIII-S2). Four individuals in the family carried the identical mutation in the SCN5A gene, but none of the 12 sporadic patients did. This mutation was not found in 150 unrelated normal individuals. This finding is the first report of a novel mutation in SCN5A associated with Brugada syndrome in Koreans.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Sung Soon(김성순)
Lee, Moon Hyoung(이문형) ORCID logo https://orcid.org/0000-0002-7268-0741
Jang, Yang Soo(장양수) ORCID logo https://orcid.org/0000-0002-2169-3112
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