title: Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome.
abstract: 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.
authors.affiliation: Research Institute of Molecular Genetics, Catholic Research Institutes of Medical Sciences, Seoul, 137-040, South Korea.
authors.forename: Dong-Jik
authors.initials: DJ
authors.lastname: Shin
authors.affiliation: Cardiovascular Genome Center, Yonsei University Medical Center, Seoul, South Korea.
authors.forename: Yangsoo
authors.initials: Y
authors.lastname: Jang
authors.affiliation: Cardiovascular Genome Center, Yonsei University Medical Center, Seoul, South Korea.
authors.forename: Hyun-Young
authors.initials: HY
authors.lastname: Park
authors.affiliation: DNA Link, Inc, Seoul, South Korea.
authors.forename: Jong Eun
authors.initials: JE
authors.lastname: Lee
authors.affiliation: Research Institute of Molecular Genetics, Catholic Research Institutes of Medical Sciences, Seoul, 137-040, South Korea.
authors.forename: Keumjin
authors.initials: K
authors.lastname: Yang
authors.affiliation: Research Institute of Molecular Genetics, Catholic Research Institutes of Medical Sciences, Seoul, 137-040, South Korea.
authors.forename: Eunmin
authors.initials: E
authors.lastname: Kim
authors.affiliation: Research Institute of Molecular Genetics, Catholic Research Institutes of Medical Sciences, Seoul, 137-040, South Korea.
authors.forename: Yoonjung
authors.initials: Y
authors.lastname: Bae
authors.affiliation: Research Institute of Molecular Genetics, Catholic Research Institutes of Medical Sciences, Seoul, 137-040, South Korea.
authors.forename: Jongmin
authors.initials: J
authors.lastname: Kim
authors.affiliation: Research Institute of Molecular Genetics, Catholic Research Institutes of Medical Sciences, Seoul, 137-040, South Korea.
authors.forename: Jeongki
authors.initials: J
authors.lastname: Kim
authors.affiliation: Department of Cardiology, Yonsei Cardiovascular Center, Seoul, South Korea.
authors.forename: Sung Soon
authors.initials: SS
authors.lastname: Kim
authors.affiliation: Department of Cardiology, Yonsei Cardiovascular Center, Seoul, South Korea.
authors.forename: Moon Hyoung
authors.initials: MH
authors.lastname: Lee
authors.affiliation: Laval Hospital Research Centre and Department of Medicine, Laval University, Sainte-Foy, Quebec, Canada.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Chahine
authors.affiliation: Research Institute of Molecular Genetics, Catholic Research Institutes of Medical Sciences, Seoul, 137-040, South Korea. sjkyoon@catholic.ac.kr.
authors.forename: Sungjoo Kim
authors.initials: SK
authors.lastname: Yoon
mesh_terms: D001483:Base Sequence; D002037:Bundle-Branch Block / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D006801:Humans; D007723:Korea; D008297:Male; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D017931:DNA Primers; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels