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.