Phenotypic Diversity Caused by the <i>DES</i> Missense Mutation p.R127P (c.380G&gt;C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect

Abstract

In summary, we present and characterize a likely pathogenic missense mutation <i>DES</i>-p.R127P, which causes high cardiac mortality and morbidity in the described family. Our study has relevance for the interpretation and classification of further <i>DES</i> variants and might be helpful for the genetic counseling of patients and their relatives in future cases.