Darfallah Loubna, Sifeddine Najat, Amalou Ghita, El Cadi Chaimaa Ait, Lakhiari Hamid, Barakat Abdelhamid, Rouba Hassan
Laboratory of Genomics and Human Genetics, Pasteur Institute of Morocco, Casablanca, Morocco; Laboratory of Virology, Oncology, Biosciences, Environment and New Energies, Faculty of Science and Technology Mohammedia, University Hassan II Casablanca, Morocco.
Laboratory of Genomics and Human Genetics, Pasteur Institute of Morocco, Casablanca, Morocco.
Rev Esp Patol. 2025 Jan-Mar;58(1):100795. doi: 10.1016/j.patol.2024.100795. Epub 2025 Jan 18.
Early-onset Myopathy, Areflexia, Respiratory Distress and Dysphagia (EMARDD) is a congenital neuromuscular disease with a progressive muscle weakness, respiratory failure, joint contractures, and scoliosis without any symptoms of functional brain anomalies caused by variants in the MEGF10 gene. Here, we report the clinical phenotype and genetic features of a Moroccan patient who carries a novel variant associated with EMARDD on the MEGF10 gene. The Whole Exome Sequencing analysis conducted on a 11 year old boy with respiratory and swallowing difficulties revealed the presence of the novel variant c.978T>A (p.Cys326Ter) on exon 9 of the MEGF10 gene; this variant is thought to be associated with EMARDD. Our study reports the first nonsense pathogenic de novo variant in MEGF10 associated with EMARDD worldwide, identified in a Moroccan patient.
早发型肌病、无反射、呼吸窘迫和吞咽困难（EMARDD）是一种先天性神经肌肉疾病，具有进行性肌无力、呼吸衰竭、关节挛缩和脊柱侧弯，且无由MEGF10基因变异引起的任何功能性脑异常症状。在此，我们报告一名摩洛哥患者的临床表型和遗传特征，该患者携带与EMARDD相关的MEGF10基因新变异。对一名有呼吸和吞咽困难的11岁男孩进行的全外显子组测序分析显示，在MEGF10基因第9外显子上存在新变异c.978T>A（p.Cys326Ter）；该变异被认为与EMARDD相关。我们的研究报告了在一名摩洛哥患者中鉴定出的全球首个与EMARDD相关的MEGF10基因无义致病性新生变异。
