Prevalence Study of Duchene Muscular Dystrophy and its Genetic Sequence in Southern India

Area of Science:

• Genetics
• Neuromuscular Disorders
• Molecular Biology

Background:

• Duchene Muscular Dystrophy (DMD) is a common X-linked progressive muscular disorder caused by mutations in the DMD gene.
• Mutation frequency and type vary across different populations, necessitating localized studies for effective management.
• Accurate diagnosis is crucial for planning targeted treatments and therapies to mitigate DMD severity.

Purpose of the Study:

• To investigate the mutation types, rates, and distribution in Duchene Muscular Dystrophy (DMD) patients in Southern India.
• To characterize the DMD mutation spectrum within a specific geographic cohort.
• To provide data for the development of targeted research therapies for DMD.

Main Methods:

• An observational study involving 250 genetically confirmed Duchene Muscular Dystrophy (DMD) patients.
• Data collected between March 2019 and March 2021.
• Analysis of mutation patterns including deletion, duplication, nonsense, and minor mutations.

Main Results:

• Exon deletion patterns accounted for 63% of mutations in the study population.
• Deletions were frequently observed in the proximal hotspot region (exons 3-28), comprising 16% of cases.
• Duplications were found in 21% of patients, primarily in the proximal hotspot (exons 3-25).
• Specific deletions (exon 45, exon 44) and point mutations (including nonsense, small, and missense) were also identified with varying frequencies.

Conclusions:

• The mutation spectrum in Southern Indian DMD patients is characterized by a predominant exon deletion pattern (63%) in the distal region and frequent duplications in the proximal region.
• Point mutations, nonsense mutations, and small mutations represent a smaller proportion of the observed genetic alterations.
• This study provides real-world evidence on the DMD mutation landscape in Southern India, valuable for advancing research and therapeutic strategies.