Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy

Area of Science:

• Genetics
• Neuromuscular Disorders
• Molecular Biology

Background:

• Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration.
• Mutations in the DMD gene are the primary cause of DMD, with deletions and point mutations being most common.
• Atypical genetic alterations, such as duplications, are less understood but contribute to disease presentation.

Purpose of the Study:

• To report a rare case of Duchenne muscular dystrophy with a de novo DMD exon 2-9 duplication.
• To enhance the understanding of genotype-phenotype correlations in DMD.
• To underscore the necessity of specialized care for rare genetic conditions.

Main Methods:

• Clinical assessment of a five-year-old boy presenting with symptoms of Duchenne muscular dystrophy.
• Genetic analysis to identify mutations in the DMD gene.
• Characterization of the identified duplication to understand its impact.

Main Results:

• A rare, de novo (newly occurred) duplication spanning exons 2-9 of the DMD gene was identified in the patient.
• This specific duplication represents an atypical genetic cause of Duchenne muscular dystrophy.
• The patient's clinical presentation was consistent with Duchenne muscular dystrophy.

Conclusions:

• Reporting rare duplications in the DMD gene is crucial for improving genotype-phenotype interpretation in Duchenne muscular dystrophy.
• The case highlights the need for a multidisciplinary approach to patient care.
• Multidisciplinary care is particularly vital in resource-limited settings for managing complex genetic disorders.