Alexandre Janin, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, Claire Bardel, Karine Nguyen, Philippe Chevalier, Jean-Christophe Eicher, Laurence Faivre, Juliette Piard, Emma Albert, Severine Nony, Gilles Millat
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, historically believed to affect 1 of 500 people. MYBPC3 pathogenic variations are the most frequent cause of familial HCM and more than 90% of them introduce a premature termination codon. The current study aims to determine the prevalence of deep intronic MYBPC3 pathogenic variations that could lead to splice mutations. To improve molecular diagnosis, a next-generation sequencing (NGS) workflow based on whole MYBPC3 sequencing of a cohort of 93 HCM patients, for whom no putatively causative point mutations were identified after NGS sequencing of a panel of 48 cardiomyopathy-causing genes, was performed...
February 2020: Human Mutation