Health Care : Current Reviews

Do NGS-based techniques represent a first-line testing in suspected Duchenne muscular dystrophy?

Joint Webinar: 14^th International Conference on Clinical Case Reports & 6^th International Conference on Pediatrics and Healthcare & 10^th World Summit on Oncology and Cancer Science

November 24, 2022 | Webinar

Seyed Mohammad Hosseini

Golestan University of Medical Sciences, Iran

Scientific Tracks Abstracts: Health Care Curr Rev

Abstract:

Background: Duchenne muscular dystrophy is the most prevalent X-linked recessive gene of progressive neuromuscular diseases. Mutations in the dystrophin gene cause the disease, which mostly affects boys. The main symptoms of this disorder are proximal muscle weakness. DMD is characterized by progressive muscle weakness, pseudo-hypertrophy in the calf muscle, and Gowers' sign. DMD disease progresses rapidly, and patients usually need wheelchairs at the age of 10 years, and most of them are likely to die because of underlining cardiac and respiratory complications. Methods: The subject was an 8-year-old child with typical symptoms of muscle weakness. The sequencing of the patient's genome was accomplished by the Next Generation Sequencing method, and all exons of the dystrophin gene were analyzed by MLPA technique to detect exon deletions or duplications. Results: Our data showed a micro-duplication in Dystrophin genes' encompassing the exons 10-42. The MLPA suggested this duplication in the patient. Conclusion: we recommended that the NGS method is an efficient, powerful, and cost-effective strategy for the molecular diagnosis of DMD patients. Keywords: Duchenne Muscular Dystrophy, Molecular Diagnosis, Next Generation Sequencing, Genetic diagnosis.

Biography :

Seyed Mohammad Hosseini received his master's degree in medical genetics. He was interesting in the research areas of genetics and molecular diagnostic methods of diseases. In this article, we suggested that the NGS method is an efficient, powerful and cost-effective strategy to molecular diagnosis of affected patients with DMD disease and also this technology can also be used as routine genetic diagnostic method for DMD diseases.