Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam

Ta, Minh-Hieu; Tran, Thinh Huy; Do, Ngoc-Hai; Pham, Le Anh-Tuan; Bui, The‐Hung; Ta, Van-Thanh; Tran, Van-Khanh

doi:10.1016/j.tjog.2013.10.014

Cited by 7 publications

(4 citation statements)

References 22 publications

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“…The advancement in ultrasound‐monitored amniocentesis enhanced the capability for diagnosis of DMD in utero. TA et al reported combination of STR and MLPA could be a rapid, reliable, and affordable detection protocol for determination of the carrier's status and prenatal diagnosis of DMD . Zhang et al reported that real‐time PCR assay was successfully used to make prenatal diagnosis of DMD families in thirty Chinese families .…”

Section: Discussionmentioning

confidence: 99%

A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis

Xü

Liu

Song

et al. 2018

Clinical Laboratory Analysis

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Section: Discussionmentioning

confidence: 99%

A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis

Xü

Liu

Song

et al. 2018

Clinical Laboratory Analysis

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“…The combination of MLPA with DNA full sequencing increases the diagnostic accuracy in some genetic diseases such as Peutz-Jeghers syndrome 10 or Alagille syndrome, which are known to have large gene defects. MLPA assays have been attempted in various pediatric diseases, 20 21 22 and few studies have assessed MLPA in WD patients. A deletion of exon 4 in 2 French patients with WD was reported, but no large gene rearrangements have been identified.…”

Section: Discussionmentioning

confidence: 99%

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for IdentifyingATP7BMutations and Phenotype Correlations in Children with Wilson Disease

et al. 2018

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BackgroundMutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful in increasing the diagnostic yield in other genetic disorders with large deletions or insertions. The aim of this study was to evaluate whether the detection rate of ATP7B mutations can be increased by using MLPA.MethodsWe enrolled 114 children with WD from 104 unrelated families based on biochemical tests and direct DNA full sequencing. The patients with one or zero mutant allele were investigated using MLPA. We analyzed phenotypic correlations.ResultsTotal allele frequency by full sequencing was 87.5%. Full sequencing revealed two mutant alleles in 80 of 104 unrelated children. One mutant allele was detected in 22 children, and no mutations were found in two children. Novel mutations including small deletions with frameshift mutations were identified by DNA sequencing. MLPA revealed no gross deletion or duplication in 24 children with one or zero mutant alleles. The number of detected mutations was not associated with hepatic manifestation, age of onset, Kayser-Fleischer ring, ceruloplasmin, and urinary Cu concentrations.ConclusionMLPA showed a limited role to increase the mutation detection rate in children who do not receive a definite genetic diagnosis of WD through DNA full sequencing. This finding suggests that large deletions or duplications might be extremely rare in WD. Further development is needed to improve the genetic diagnosis of WD.

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“…Prior to delivery, almost all fetal muscular dystrophies can now be discovered using these technologies. Prenatal screening includes techniques such as amniocentesis and chorionic villus sampling [81][82][83] and relative haplotype dosage (RHDO) analysis of maternal plasma to sequence the fetus genome from cell-free fetal DNA fragments in maternal plasma [83]. Preimplantation genetics can also be used by removing the blastomere following in-vitro fertilization, followed by DNA extraction and analysis [84].…”

Section: Diagnosismentioning

confidence: 99%

A Comprehensive Review of Duchenne Muscular Dystrophy: Genetics, Clinical Presentation, Diagnosis, and Treatment

Limback

Jacobus

Wiggins-McDaniel

et al. 2022

BJI

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Duchenne Muscular Dystrophy (DMD) is a genetic disorder involving progressive muscle deterioration leading to loss of mobility, cardiomyopathy, and respiratory complications leading to an early death by the fourth decade of life. Males are affected more often as DMD results from a mutation in the dystrophin gene residing on the X chromosome. The DMD genetic mutation results in a complete functional lack of dystrophin, which culminates as an inadequate connection between the intracellular actin filaments and the extracellular skeleton of muscle. Boys affected by DMD clinically present with muscle weakness before age five, are often wheelchair-bound by age 12, and rarely survive beyond the third decade of life. Traditional treatment strategies have focused primarily on quality-of-life improvement and have included the use of glucocorticoids and physical therapy. No cure currently exists, however many novel treatments for DMD are currently being explored. Some of these involve gene therapy, exon skipping, stop codon skipping, CRISPR technology interventions, and the use of a retinal dystrophin isoform. In this comprehensive review, we recapitulate the literature findings to summarize the history, epidemiology, genetics, clinical presentation, diagnosis, and current and future strategies for the treatment of Duchenne Muscular Dystrophy.

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Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam

Abstract: Our results suggest that the combination of STR and MLPA could be a rapid, reliable, and affordable detection protocol for determination of the carrier's status and prenatal diagnosis of DMD in a developing country such as Vietnam.

Cited by 7 publications

References 22 publications

A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis

A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for IdentifyingATP7BMutations and Phenotype Correlations in Children with Wilson Disease

A Comprehensive Review of Duchenne Muscular Dystrophy: Genetics, Clinical Presentation, Diagnosis, and Treatment

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