Background: Cardiac sodium channel alterations have been identified as the underlying condition in patients with Brugada syndrome.
Objective: This study identified a novel mutation of the SCN5A gene in a family with Brugada syndrome.
Methods: Blood was drawn from the children and mother for genetic analysis. All exons of the SCN5A gene were amplified by polymerase chain reaction, and a sequence analysis was performed.
Results: The mutation was detected in 1 symptomatic and 2 asymptomatic family members. The deletion of base 4066_4068delTT leads to a shift in the amino acid sequence and a premature stop of the protein translation. The clinical diagnosis of Brugada syndrome in this family was supported by the detection of the new mutation.
Conclusion: We describe a family partly with Brugada syndrome and a novel mutation in the exon 23 of the SCN5A gene leading to a deletion of 2 thymidine bases. This mutation results in an early termination of the encoded protein and possibly in a nonfunctional channel protein.
Copyright © 2011 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.