Mashhood Hamid1,* and Muhammad Zubair Zafar2
1Registrar Physician, Family Medicine Department, King Saud University Medical City, Riyadh, Saudi Arabia 2Faisalabad Medical University, Allied Hospital, Faisalabad, Pakistan
*Corresponding author: firstname.lastname@example.org (MH); email@example.com (MZZ)
Duchenne and Becker muscular dystrophy (DMD) is a chronic debilitating and progressive muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. As a result of mutations in the DMD gene (encoding dystrophin), muscle dystrophin production is abolished. Dystrophic muscles are more susceptible to damage, resulting in progressive weakness and cardiomyopathy. Detailed understanding of the mutational spectrum of the DMD gene is fundamental to genetic counseling, prenatal diagnosis, and selection of suitable patients for mutation-specific treatments in the future. However, a molecular diagnosis with accuracy and convenience is difficult, due to the immense size of the dystrophin gene and the diversity of causative mutations. Traditional methods of diagnosing DMD, including multiplex ligation-dependent probe amplification and Sanger sequencing, need multiple steps and have many flaws. A stop codon read-through approach and exon-skipping are the most promising therapeutic options to date for the treatment of DMD. To use either of these approaches, a very precise identification of the mutational status of the DMD gene must be made in patients with DMD. Identifying the causal variation in DMD within this difficult-to-diagnose group necessitated using novel contemporary methods. This Primer provides a comprehensive introduction to the practice of next-generation sequencing technologies for a more detailed characterization of the mutational spectrum within the human dystrophin gene.