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Original Article
Online Published: 18 Dec 2024
 


Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi

Komal Uppal, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor.


Abstract
Background: Duchenne Muscular Dystrophy (DMD) the most common muscular dystrophy affecting mainly males, is caused by mutation of DMD (dystrophin) gene. The present study aimed at reporting the phenotypic and mutation spectrum of clinically suspected DMD children by molecular testing from the tertiary hospital, Delhi.
Methods: In this retrospective study, molecular testing was done in 73 clinically suspected DMD patients to identify DMD deletions, duplication or point mutation.
Results: Among 73 clinically suspected DMD patients confirmed by genetic testing, DMD gene deletion was present in 79.45 %, duplication in 1.3% and point mutation in 19.17 % cases. In 89.6 % of patients, deletion was located at distal hot spot region. Single exon deletion was found in 18.9 %. Distal hotspot exons 44, 45 and 52 were the commonly deleted exons.
Conclusions: Positive results by genetic testing prove to be investigation of choice for definitive diagnosis, to offer genetic counseling and prenatal diagnosis and it also helps in further discovery of mutation specific therapeutic interventions.

Key words: Duchenne muscular dystrophy, dystrophin, Deletion. Key Message: 1. Genetic tests should be the primary diagnostic tool for suspected cases of DMD. 2. Genetic test provides essential data for research aimed at developing mutation-specific drugs.


 
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How to Cite this Article
Pubmed Style

Uppal K, Polipalli SK, Kumar S, Kapoor S. Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi. JBCGenetics. Online First: 18 Dec, 2024. doi:10.24911/JBCGenetics.183-1719473976

Web Style

Uppal K, Polipalli SK, Kumar S, Kapoor S. Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi. https://www.jbcgenetics.com/?mno=207302 [Access: December 19, 2024]. doi:10.24911/JBCGenetics.183-1719473976

AMA (American Medical Association) Style

Uppal K, Polipalli SK, Kumar S, Kapoor S. Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi. JBCGenetics. Online First: 18 Dec, 2024. doi:10.24911/JBCGenetics.183-1719473976


Vancouver/ICMJE Style

Uppal K, Polipalli SK, Kumar S, Kapoor S. Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi. JBCGenetics, [cited December 19, 2024]; Online First: 18 Dec, 2024. doi:10.24911/JBCGenetics.183-1719473976


Harvard Style

Uppal, K., Polipalli, . S. K., Kumar, . S. & Kapoor, . S. (2024) Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi. JBCGenetics, Online First: 18 Dec, 2024. doi:10.24911/JBCGenetics.183-1719473976


Turabian Style

Uppal, Komal, Sunil Kumar Polipalli, Somesh Kumar, and Seema Kapoor. 2024. Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi. Journal of Biochemical and Clinical Genetics, Online First: 18 Dec, 2024. doi:10.24911/JBCGenetics.183-1719473976


Chicago Style

Uppal, Komal, Sunil Kumar Polipalli, Somesh Kumar, and Seema Kapoor. "Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi." Journal of Biochemical and Clinical Genetics Online First: 18 Dec, 2024. doi:10.24911/JBCGenetics.183-1719473976


MLA (The Modern Language Association) Style

Uppal, Komal, Sunil Kumar Polipalli, Somesh Kumar, and Seema Kapoor. "Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi." Journal of Biochemical and Clinical Genetics Online First: 18 Dec, 2024. Web. 19 Dec 2024 doi:10.24911/JBCGenetics.183-1719473976


APA (American Psychological Association) Style

Uppal, K., Polipalli, . S. K., Kumar, . S. & Kapoor, . S. (2024) Clinical and Genetic Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Delhi. Journal of Biochemical and Clinical Genetics, Online First: 18 Dec, 2024. doi:10.24911/JBCGenetics.183-1719473976




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