Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel <i>LMNA</i> Pathogenic Variant

Abstract

<b><i>Background:</i></b> Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder characterized by muscle weakness and atrophy associated with early tendon retractions and late cardiomyopathy. Among several genes, <i>EMD</i> and <i>LMNA</i> are the major ones (55%). Due to intra- and inter-familial heterogeneity, only NGS allows to confirm with certainty EDMD by identifying the mutation in the causal gene. <b><i>Case Presentation:</i></b> We report clinical and molecular data of two unrelated Moroccan patients with EDMD in whom we identified a deleterious hemizygous splicing variant NM_000117.3(<i>EMD</i>): c.399 + 1G&gt;T and a novel frameshift variant NM_170707.4(<i>LMNA</i>): c.1549_1550delCA, respectively. Carrier status of the <i>EMD</i> variant was investigated in several relatives at risk. <b><i>Conclusion:</i></b> We emphasize the importance of NGS as a powerful genetic tool in EDMD for accurate molecular diagnosis, effective clinical management of patients, and appropriate genetic counseling of families.