Fig. 1
Clinical characteristics. A The family pedigree of the recruited patient carrying heterozygous frameshift mutation (T1788fs) in the SCN5A gene. Squares and circles represent male and female subjects, respectively. White and black symbols indicate unaffected and affected individuals. The arrow indicates the proband. B Typical electrocardiogram (ECG) from the proband demonstrating the marked type 1 BrS pattern in the lead V1 indicated by the red arrows. C DNA sequence chromatograms of the proband and his parents, depicting a heterozygous frameshift mutation (c.5363-5366del; p.T1788fs) in the SCN5A gene in the proband but not in his parents. D Schematic representation of the cardiac sodium channel Nav1.5. The identified T1788fs mutation locates at the C terminus of Nav1.5. E Sequence alignment of amino acids adjacent to Thr1788 in the SCN5A gene among 10 different species