Key result
Novel SCN5A missense mutation V1951L identified in a familial cluster with Brugada-type ECG.
Case Report (n=5)
No
This report documents the first identification of an SCN5A missense mutation (V1951L) associated with Brugada syndrome in a Korean family.
V1951L SCN5A variant identified in Korean Brugada family; extends mutation spectrum but leaves pathogenicity and utility open.
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 electrocar-diogram. (Korean Circulation J 2003;33(2):150-154)
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Shin et al. (2003) conducted a case report in Brugada syndrome (n=5). SCN5A gene mutation was evaluated on Identification of SCN5A gene mutation. Three members of a Korean family with a Brugada-type electrocardiogram were found to carry a heterozygous missense mutation (V1951L) in the SCN5A gene.
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