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. 2024 Dec;15(6):517-522.
doi: 10.1159/000538917. Epub 2024 Jun 10.

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

Yasmina Rahmuni  1   2 , Youssef El Kadiri  1   2 , Jaber Lyahyai  1 , Nezha Birouk  3 , Mounir Nesnassi  4 , Abdelaziz Sefiani  1   2 , Ilham Ratbi  1   5
Affiliations

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

Yasmina Rahmuni et al. Mol Syndromol. 2024 Dec.

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, EMD and LMNA 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(EMD): c.399 + 1G>T and a novel frameshift variant NM_170707.4(LMNA): c.1549_1550delCA, respectively. Carrier status of the EMD 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.

Keywords: EMD; Emery-Dreifuss muscular dystrophy; LMNA; NGS.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1.
Fig. 1.
Pedigrees of the families affected by EDMD. Affected individuals are shaded. Arrows indicate individuals in whom blood was analyzed.
Fig. 2.
Fig. 2.
Molecular results of the two studied families. a Hemizygous, heterozygous, and wild-type profile of NM_000117.3(EMD): c.399 + 1G>T variant by DNA sequencing. b Skipping of exon 4 of EMD gene in patient (FI: V2) showed by cDNA sequencing. c The result of DNA Sanger sequencing of proband FII: III-1 showing the c.1549_1550delCA variant, resulting in a 2-base deletion and a frameshift p.Gln517Glufs*34 in LMNA gene.
See this image and copyright information in PMC

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