Whole-exome sequencing identified a novel, likely pathogenic mutation (c.959T>G/p.L320R) of actinin alpha 2 (ACTN2) in all affected members of a Chinese family with dilated cardiomyopathy.
Case Report
The identification of a novel ACTN2 mutation expands the genetic spectrum of dilated cardiomyopathy and ventricular tachycardia, aiding in genetic diagnosis and counseling.
Dilated cardiomyopathy (DCM) is a severe cardiovascular disease which can lead to heart failure and sudden cardiac death (SCD). The typical feature of DCM is left ventricular enlargement or dilatation. In some conditions, DCM and arrhythmia can occur concurrently, apparently promoting the prevalence of SCD. According to previous studies, mutations in more than 100 genes have been detected in DCM and/or arrhythmia patients. Here, we report a Chinese family with typical DCM, ventricular tachycardia, syncope, and SCD. Using whole-exome sequencing, a novel, likely pathogenic mutation (c.959T>G/p.L320R) of actinin alpha 2 (ACTN2) was identified in all affected family members. This novel mutation was also predicted to be disease-causing by MutationTaster, SIFT, and Polyphen-2. Our study not only expands the spectrum of ACTN2 mutations and contributes to the genetic diagnosis and counseling of the family, but also provides a new case with overlap phenotype that may be caused by the ACTN2 variant.
Fan et al. (Tue,) conducted a case report in Dilated cardiomyopathy and ventricular tachycardia. Whole-exome sequencing was evaluated on Identification of genetic mutation. Whole-exome sequencing identified a novel, likely pathogenic mutation (c.959T>G/p.L320R) of actinin alpha 2 (ACTN2) in all affected members of a Chinese family with dilated cardiomyopathy.