Korean Circ J.
2003 Feb;33(2):150-154. 10.4070/kcj.2003.33.2.150.
A Family with A Missense Mutation in the SCN5A Gene
- Affiliations
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- 1Department of Biochemistry, Wonkwang University School of Medicine, Iksan, Korea.
- 2Department of Internal Medicine, Wonkwang University School of Medicine, Iksan, Korea.
- KMID: 2029618
- DOI: http://doi.org/10.4070/kcj.2003.33.2.150
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.
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