We recently identified a novel, heterozygous, and non-synonymous ACTC1 mutation (p.Gly247Asp or G247D) in a large, multi-generational family, causing atrial-septal defect followed by late-onset dilated cardiomyopathy (DCM).
In the present study, we further searched for mutations in human α-cardiac actin (ACTC1) and smooth muscle α-actin (ACTA2) genes as a possible cause of atrial septum defect type II (ASDII) and PDA.
The frequencies of II (Insertion/Insertion) genotype in the ASD and VSD patients were significantly higher than that of controls (p=0.004 for ASD Vs. controls, and p=0.009 for VSD Vs. controls, respectively), and the frequencies for I allele in CHD patients were also significantly higher than that in controls (p=0.01 for ASD Vs. controls, and p=0.009 for VSD Vs. controls, respectively).