OBJECTIVE: Brugada syndrome is an inherited channelopathy that characterized by 
ST-segment elevation in the right precordial lead (V(1)-V(3)) on the 
electrocardiogram with or without right bundle branch block and related with 
high risk of sudden cardiac death and structurally normal hearts. The first and 
only gene linked to this disease is SCN5A, a gene encodes for alpha subunit of 
the cardiac sodium channel. The objective of this study is to explore SCN5A gene 
mutations in Chinese patients with Brugada syndrome.
METHODS: Four patients diagnosed as Brugada syndrome and nine patients with 
suspected Brugada syndrome were chosen for the study. The exons in the 
functional regions of SCN5A gene were amplified with polymerase chain reaction 
and the amplified products were sequenced with Sanger method. If a mutation was 
identified, patient's family members were also screened.
RESULTS: Two heterozygous mutations were found in one family diagnosed as 
Brugada syndrome. One missense mutation was a G-->A transition in the first 
nucleotide of codon 95 in SCN5A gene exon 3, which was predicted to result in 
substitution of Valine with Isoleucine (V95I). The other missense mutation was a 
C-->T transition in the second nucleotide of codon 1649 in SCN5A gene exon 28, 
which was predicted to result in substitution of Alanine with Valine (A1649V). A 
heterozygous mutation was identified in one family suspected to have the 
disease. The mutation was a three nucleotides (TCT) deletion that caused 
Phenylalanine deletion in codon 1617 in SCN5A gene exon 28. The three mutations 
were not detected in 100 control chromosomes.
CONCLUSIONS: Mutation in SCN5A gene is one of the causes of Brugada syndrome in 
Chinese. Three novel SCN5A gene mutations were identified in Chinese with 
Brugada syndrome, which expands the spectrum of SCN5A mutations associated with 
the disease.