Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series

Our aim is to characterize predicted protein-truncating variants (PTVs) in MYBPC3, the gene most commonly associated with hypertrophic cardiomyopathy (HCM), found in a series of autopsied HCM cases after sudden unexpected cardiac death (SUCD). All cases underwent death scene investigation, gross and microscopic autopsies, toxicological testing, a review of medical records, and a molecular analysis of 95 cardiac genes. We found four pathogenic PTVs in MYBPC3 among male decedents. All variants were submitted to ClinVar without phenotype details.

Source: Cardiovascular Pathology - September 13, 2018 Category: Cardiology Authors: Nori Williams, Robert Marion, Thomas V. McDonald, Dawei Wang, Bo Zhou, Lucy S. Eng, Sung Yon Um, Ying Lin, Kevin Ruiter, Lisa Rojas, Barbara A. Sampson, Yingying Tang Source Type: research