Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel Pathogenic Variant.

BACKGROUND

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, and 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.

CASE PRESENTATION

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(): c.399 + 1G>T and a novel frameshift variant NM_170707.4(): c.1549_1550delCA, respectively. Carrier status of the variant was investigated in several relatives at risk.

CONCLUSION

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.