Rahmuni Yasmina, El Kadiri Youssef, Lyahyai Jaber, Birouk Nezha, Nesnassi Mounir, Sefiani Abdelaziz, Ratbi Ilham
Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
Mol Syndromol. 2024 Dec;15(6):517-522. doi: 10.1159/000538917. Epub 2024 Jun 10.
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.
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.
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.
埃默里-德赖富斯肌营养不良症（EDMD）是一种神经肌肉疾病，其特征为肌肉无力和萎缩，伴有早期肌腱挛缩和晚期心肌病。在多个基因中，[此处原文缺失具体基因名称]是主要基因（占55%）。由于家族内和家族间的异质性，只有二代测序（NGS）能够通过识别致病基因中的突变来确定性地确诊EDMD。
我们报告了两名无关的摩洛哥EDMD患者的临床和分子数据，在其中一名患者中我们分别鉴定出一个有害的半合子剪接变异NM_000117.3（）：c.399 + 1G>T和一个新的移码变异NM_170707.4（）：c.1549_1550delCA。对几名有风险的亲属进行了该变异携带者状态的调查。
我们强调了二代测序作为EDMD中一种强大的基因工具在准确分子诊断、患者有效临床管理以及对家庭进行适当遗传咨询方面的重要性。
