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Figure 4 Cardiac sodium channel gene SCN5A missense mutation cosegregating with the Brugada syndrome. (A) Electrocardiogram of an affected individual. Note the elevated ST segment in leads V₁ to V₃. (B) Pedigree structure and mutation analysis using single strand conformation polymorphism analysis with primers amplifying exon 28 of the cardiac sodium channel gene, SCN5A. Affected individuals are filled circles (female) and filled squares (male). Unaffected individuals are empty symbols, and individuals without clinical data are shown as hatched. The individual who suffered sudden cardiac death is slashed. (C) Deoxyribonucleic acid and amino-acid sequences of the SCN5A missense mutation associated with the Brugada syndrome. Deoxyribonucleic acid sequence analysis revealed a C to T substitution, which causes the substitution of a highly conserved threonine by a methionine at codon 1,620 (T1620M mutation) in the extracellular loop between DIVS3 and DIVS4. Adapted with permission from Chen et al. (55).