Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal

Pillay, Kayla; Bill, P. L. A.; Madurai, Savathree; Mubaiwa, L; Rapiti, Pamela

doi:10.1016/j.jns.2006.06.025

Cited by 13 publications

(10 citation statements)

References 7 publications

(8 reference statements)

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“…Ballo et al [12] reported a lower incidence of deletions in black patients (10/42; 26%) and suggested that other intragenic mutations, lying outside the two described hotspots, may be causative in this population group. However, Hallwirth Pillay et al [13] did not find the same picture in their cohort of black patients, reporting a deletion detection rate similar to that in the literature (25/40; 62%).…”

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confidence: 45%

“…Previous studies in this country have identified deletions in 50% (30/60) of affected boys, using the Southern blotting technique, [11] 42% (46/110) of affected boys using Southern blotting together with mPCR, [12] and 57% (39/68) of affected boys using the Chamberlain and Beggs mPCR approach. [13] All these studies included patients of different ethnic origins (black, Indian, mixed ancestry and white). Ballo et al [12] reported a lower incidence of deletions in black patients (10/42; 26%) and suggested that other intragenic mutations, lying outside the two described hotspots, may be causative in this population group.…”

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confidence: 99%

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Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa

et al. 2013

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Background. Genetic testing for Duchenne/Becker muscular dystrophy (DMD/BMD) mutations initially involved multiplex polymerase chain reaction (mPCR), which targeted two mutation hotspots in the gene and detected deletions in affected males. A newer technology, multiplex ligation-dependent probe amplification (MLPA), was introduced for diagnostic testing in 2007. Objectives. To evaluate MLPA relative to mPCR as a technique for DMD/BMD diagnostic testing and to establish whether the mutation profile in affected individuals differs between different South African ethnic groups. Methods. From January 2000 -May 2007, genetic diagnostic testing for DMD/BMD was undertaken in 128 male patients using mPCR. From May 2007 onwards, MLPA replaced this technique and 261 males were investigated. MLPA is a kit-based technology available from MRC-Holland. Results. Of the 128 and 261 probands tested using mPCR and MLPA, respectively, 31% and 34% were found to carry a deletion mutation. Further, MLPA could detect duplication mutations (11.5%), complex rearrangements (1.5%) and small mutations (1.5%). In black patients, deletion mutations were found to cluster in the 3' region of the gene. No population-specific pathogenic mutations were found. Conclusions. The mutation detection rate for mPCR and MLPA is similar for deletion mutations, but MLPA proved to be a better diagnostic approach as it could detect other types of mutations as well, including duplications, complex rearrangements and small mutations. MLPA could also diagnose mutation status in at-risk female relatives, which is not possible with mPCR.

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confidence: 45%

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confidence: 99%

Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa

et al. 2013

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“…[24][25][26][27] The distribution of the exon deletions into two 'hot-spot' regions (exons 3-19 and 45-55) is similar with the published literature. [28] However, most of the duplications were of exons 2-18, in contrast to data published by Petr et al, who reported that a duplication of exons 25-55 had the highest frequency. [29] Although differences in the ethnicity of patients should be taken into account, variability in the number of tested exons throughout the study could also affect the diagnostic results.…”

Section: Dmd 3 Bmdmentioning

confidence: 66%

Duchenne or Becker muscular dystrophy: A clinical, genetic and immunohistochemical study in China

Wang

Yang²,

Yang³

et al. 2011

Neurol India

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“…Besides, approximately 10% patients with duplication mutations may be misdiagnosed [65]. In 2002, multiplex ligation-dependent probe amplification (MLPA) was invented by Schouten [66], which possesses the capacity to quantify all 79 exons in only 2 reaction sets and facilitates the diagnosis of D/BMD.…”

Section: Resultsmentioning

confidence: 99%

Application of Multiplex PCR for Detection of Duchunne Muscular Dystrophy: A Childhood Neuromuscular Disorder

Srivastava¹,

Srivastava²

2018

J Neurol Neurosci

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Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that affects 1 in 3,600 -6,000 males and is caused by mutation in the dystrophin gene. This is neuromuscular disorder with progressive muscle weakness, which predominantly affect males. Till date no absolute cure of the disease is available in clinical practice. Early diagnosis and timely management are requisite for DMD and it enhances the quality of life of patients. Various diagnostic approaches are available but due to accuracy, early detection and non-invasive method molecular tools are most remarkable in recent era. Multiplex PCR has emerged as one of the most convenient tools for screening of DMD in terms of its sensitivity, specificity, accuracy, cost effectiveness and time consumption. The current study emphasizes advantages and shortcomings of multiplex PCR with reference to most of the past studies along with its challenges for DMD detection in detail. Mutation detection is evidently crucial for diagnosis, as well as it may also be significant for future therapeutic purposes. Further research is important to elucidate specific mutation pattern in association with management and therapies of proband.

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Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal

Cited by 13 publications

References 7 publications

Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa

Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa

Duchenne or Becker muscular dystrophy: A clinical, genetic and immunohistochemical study in China

Application of Multiplex PCR for Detection of Duchunne Muscular Dystrophy: A Childhood Neuromuscular Disorder

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