Mutations in the DSP gene cause dilated cardiomyopathy and wooly hair syndrome and arrhythmogenic right ventricular cardiomyopathy. Arrythmogenic right ventricular cardiomyopathy is an autosomal dominant myocardial disorder characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography. The disease has a broad spectrum of clinical manifestations from a benign asymptomatic course to a malignant course with serious arrhythmias, heart failure, and sudden cardiac death. Additionally, dilated cardiomyopathy and wooly hair syndrome is caused by two mutations in the DSP gene.
The c.699G>A (p.Trp233*) variant is a nonsense mutation in exon 5 of the DSP gene, and is the most frequent pathogenic variant found in the Amish population. The homozygous c.699G>A (p.Trp233*) variant has been reported in Old Order Amish children with dilated cardiomyopathy and woolly hair syndrome. This test will specifically analyze the c.699G>A (p.Trp233*) variant.
1 - 2 weeks