Key result
Exon deletions account for 63% of DMD gene mutations in southern Indian patients.
Why the study?
The frequency and distribution of dystrophin gene mutations vary among different DMD populations, and precise diagnosis aids targeted treatment planning.
Observational (n=250)
This study characterizes the genetic mutation spectrum of Duchenne Muscular Dystrophy in Southern India, highlighting a 63% prevalence of exon deletions.
Maps DMD mutation spectrum in southern India; leaves open whether regional patterns inform targeted therapies.
Objective: Duchene Muscular dystrophy (DMD) is the common X-linked heterogenous progressive muscular dystrophy characterized by mutations in the DMD gene. The frequency of dystrophin gene mutations is varied in different DMD population. A precise diagnosis can help to reduce the severity of DMD since it aids in planning of targeted medical treatment and required therapies. This study was aimed to investigate the mutation type, their rate and distribution of DMD'S in southern India. Materials & Materials: An observational study was conducted on 250 genetically confirmed DMD patients from March,2019 to March,2021. The distribution pattern and rate of mutations (deletion, duplication, nonsense mutations, minor mutations) were investigated. Results: Mutation spectrum was studied on 250 DMD patients, of which 63% exon deletion pattern were reported. 16% deletions were detected in proximal hot region (exons 3-28). The duplications were found 21% in the proximal hotspot largest region (exon 3-25). 16% of the patients reported single deletion (45 exon), 10.7% reported deletions of exon 44. Point mutations detected in 6%, small mutations were detected in 1.2%, non-sense mutations were detected in 2% of study population respectively. Missense Mutations were detected in 0.8% of study population. Conclusion: This study estimates mutation spectrum of exon deletion pattern (63%) was predominantly identified in distal region; duplication was most frequent in proximal region. Point mutations, Nonsense mutations and small mutations have a least accountability. This study adds a real world evidence for developing research therapies in DMD.
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Sattenapalli et al. (2023) conducted an observational in Duchene Muscular Dystrophy (DMD) (n=250). DMD gene mutations was evaluated on Distribution pattern and rate of mutations. DMD gene mutation analysis in 250 patients from southern India revealed that exon deletions were the most common pattern (63%), followed by duplications (21%) and point mutations (6%).
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