AI Article Synopsis
- - Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder that leads to muscle weakness and heart problems, mainly caused by mutations in specific genes, identified through next-generation sequencing (NGS).
- - The study examined two Moroccan patients with EDMD, revealing one with a known splicing variant and another with a new frameshift variant, along with testing relatives for carrier status.
- - The findings highlight NGS as crucial for accurately diagnosing EDMD, managing patient care, and providing genetic counseling to affected families.
Article Abstract
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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11614433 | PMC |
| http://dx.doi.org/10.1159/000538917 | DOI Listing |
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