Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns

Dama, Tavisha; Chheda, Pratiksha; Limaye, Shweta; Pande, Shailesh; Vinarkar, Sushant

doi:10.4103/0028-3886.355142

Neurol India

2022

DOI: 10.4103/0028-3886.355142

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Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns

Tavisha Dama¹,

Pratiksha Chheda²,

Shweta Limaye³

et al.

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2023

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Cited by 3 publications

(1 citation statement)

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“…Confirmation of copy number changes was achieved using MLPA, qPCR, or repeat array CGH analysis. This multi-step approach was chosen to mitigate the false positive rate associated with MLPAonly technology, which can reach 6%-15% for single exon deletions in the DMD gene due to improper hybridization/ligation binding of the probe (Dama et al, 2022;Kim et al, 2016).…”

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confidence: 99%

Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms

Aljaberi,

Vengoechea

2023

American J of Med Genetics Pt A

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mentioning

confidence: 99%

Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms

Aljaberi,

Vengoechea

2023

American J of Med Genetics Pt A

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Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy

Singer,

Aartsma-Rus,

Grinshpun-Cohen

et al. 2023

Genetics in Medicine

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Türkiye'de Duchenne/Becker Musküler Distrofisi Kohortunda Distrofin Gen Delesyonları ve Duplikasyonlarının Dağılımı

ÖZTÜRK,

ÖZYAVUZ ÇUBUK,

AKIN DUMAN

2023

Osmangazi̇ Journal of Medicine

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Duchenne Muscular Dystrophy (DMD) is the most prevalent muscle disease in children, and unfortunately, currently there are no effective treatments for either DMD or Becker Muscular Dystrophy (BMD). Nevertheless, targeted gene therapy treatments have recently emerged, and genetic diagnoses is now the basis of treatment. In addition, genetic and prenatal diagnosis have significantly reduced the incidence rates of these diseases. The aim of this study was to identify the most common deletion and duplication regions in the Turkish population using the Multiplex Ligation-dependent Probe Amplification (MLPA) method, as well as to determine the suitability of patients for current treatments and identify new treatment target regions based on the findings. In clinical practice, data from 103 patients with Duchenne and Becker muscular dystrophy who have been identified with the deletion/duplication using the Multiplex Ligation-dependent Probe Amplification (MLPA) method, as well as 35 participants carrying the deletion/duplication for these diseases, were analyzed. The aim was to detect the most common deletion/duplication regions of the Dystrophin gene in the Turkish population. The majority of patients had deletions (89.9% in males and 75% in females), while a smaller percentage had duplications. The most common deletions occurred in exons 50 and 49, while the most common duplication was in exon 7. The deletions in exons 45-52 accounted for over half of all deletions, and most deletions involved 5 or less exons. The longest deletions involved 30 exons and were found in 2 patients. The findings of this research have provided valuable insights into the prevalence of deletions and duplications in the dystrophin gene among individuals in our population. The results indicate that a significant proportion of patients may be eligible for treatments that are not yet widely available. This study highlights the critical role of population-specific data in advancing the field of dystrophin gene-based therapies.

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Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns

Cited by 3 publications

References 9 publications

Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms

Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms

Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy

Türkiye'de Duchenne/Becker Musküler Distrofisi Kohortunda Distrofin Gen Delesyonları ve Duplikasyonlarının Dağılımı

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