Identification of a de-novo variant of the MEGF10 gene associated with EMARDD

Abstract

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.