Research Paper Volume 4, Issue 11 pp 803—822

Figure 1. Clinical phenotype and LMNA genotype

(A) The pedigree of the proband (Patient II-7) with cardiac laminopathy featuring atrial fibrillation, atrioventricular block, dilated cardiomyopathy, ventricular tachyarrhythmia and sudden cardiac death. Four-generation family had 9 affected members showing autosomal-dominant cardiac disease. (See also table 1)(Square = male; circle = female; slash = deceased). A nonsense LMNA mutation (R225X) segregates with atrial fibrillation, atrioventricular block, dilated cardiomyopathy and ventricular tachyarrhythmia (“+” = LMNA^R225X/WT, “-” = LMNA^WT/WT). (B) The sequence chromatogram of the mutant allele of LMNA. The mutation altering amino acid sequence (in red) predicts a premature stop codon. (C) The schematic of lamin A/C proteins. Alternative splicing results at 572 and 664 amino acid lamin C and lamin A proteins. The R225X mutation results in a premature stop codon in the α-helical rod domain, thus a truncated lamin protein.