Fig. 2

a Pedigree and results of Sanger sequencing. Genetic testing was performed in Case 1 (II-4), 2 (III-1), 3 (III-4), and the second son of the patient of Case 1 (III-6). An LMNA nonsense mutation, E159*, was identified in Cases 1, 2, and 3. The second son did not have any LMNA mutations. The proband is indicated by an arrow. Cases with the E159* LMNA mutation are shown as (+), and those without the mutation are shown as (−). Squares represent males, and circles represent females. b Direct sequencing revealed a nonsense mutation of LMNA (E159*) in Case 1. c Structure of LMNA (top) and lamin A (bottom) and C (middle) protein. AF, atrial fibrillation; CAVB, complete atrioventricular block; CRTD, cardiac resynchronization therapy defibrillator; DCM, dilated cardiomyopathy; LMNA, lamin A/C; NLS, nuclear localization signal; PMI, pacemaker implantation; SCD, sudden cardiac death; SSS, sick sinus syndrome; VF, ventricular fibrillation; VT, ventricular tachyarrhythmia