Unique genetic background and outcome of non ‐Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy

ConclusionThe genetic background of Japanese ARVD/C probands is distinct from that of Caucasian probands, leading to distinct prognosis. The most affected gene mutations in Japanese probands were missense mutations in DSG2 leading to modest outcome, whereas PKP2 truncating mutations were the second most and might be a strong marker for lethal VAs in non‐Caucasian Japanese ARVD/C probands. Japanese ARVD/C probands have unique genetic backgrounds that are predominated by DSG2 missense mutation followed by PKP2 truncating mutations. Truncating mutation carriers showed worse outcome in the age‐dependent manner than those with missense mutations or mutation negatives. Truncating mutation per se plays a critical role in predicting outcome.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research