A Family with A Missense Mutation in the SCN5A Gene.
10.4070/kcj.2003.33.2.150
- Author:
Chang Ho SHIN
1
;
Nam Ho KIM
;
Kyung Hee KIM
;
Su Sung YOO
;
Yong Bock CHOI
;
Seok Kyu OH
;
Kyeong Man HONG
;
Jin Won JEONG
;
Moon Kee PAIK
Author Information
1. Department of Biochemistry, Wonkwang University School of Medicine, Iksan, Korea.
- Publication Type:Case Report
- Keywords:
Brugada syndrome;
Ventricular fibrillation;
Sodium channels;
Mutation
- MeSH:
Brugada Syndrome;
Bundle-Branch Block;
Electrocardiography;
Exons;
Humans;
Korea;
Leucine;
Mutation, Missense*;
Sodium Channels;
Valine;
Ventricular Fibrillation
- From:Korean Circulation Journal
2003;33(2):150-154
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST-segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations in the cardiac sodium channel gene, SCN5A, and to the best of our knowledge, there has been no report of this mutation in Korea. Three members of a family were heterozygous for a G to T substitution at the nucleotide position 5851 in exon 28 of the SCN5A gene. This nucleotide alteration makes a missense mutation, leading to a valine to leucine substitution (V1951L), in the carboxy terminal region of the sodium channel a subunit. We report here a missense mutation in a Korean family with Brugada-type electrocardiogram.
