A case report of Duchenne muscular dystrophy; identification of a novel mutation in dystrophin gene using next generation sequencing

Abstract

Duchenne muscular dystrophy (DMD) is one of the most common form of neuromuscular dystrophy in male children. Mutation in Dystrophin gene is responsible for DMD disease. Here, we aimed to identify the possible causing mutation(s) in a 9-year-old male patient with muscular dystrophy. Multiplex Ligation-dependent Probe Amplification (MLPA) results did not find deletions/duplications mutations. Next generation sequencing (NGS) results indicated a hemizygous nonsense c.3655G > T (p. Glu1219Ter) variant on DMD gene (NM004006: exon27). This variant is predicted to be harmful because it is expected to affect the protein's function. © 201