Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns

Dastur, Rashna S; Gaitonde, Pradnya S; Khadilkar, Satish V; Nadkarni, Jayshree J.

doi:10.4103/0028-3886.40961

Cited by 15 publications

(9 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[1417252627] However in our data, we found seven clinically suspected BMD patients, out of which 42.86% (3/7) were identified by M-PCR. Out of which 66.67% (2/3) deletions started from 5’ region of the gene.…”

Section: Discussionmentioning

confidence: 72%

“…[16] In DMD, translation termination (out-frame) results in a loss or truncation of dystrophin, while BMD patients carry mainly frame maintaining (in-frame) mutation, which leads to partial function of protein and hence results in a milder phenotype. [17] The understanding of this mechanism has a potential role for development of specific management or treatment of proband.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India

Rao

Sindhav

Mehta³

2014

Ann Indian Acad Neurol

View full text Add to dashboard Cite

Objective:In India, various groups have studied different regions to find out deletion pattern of dystrophin gene. We have investigated its deletion pattern among Duchenne/Becker muscular dystrophy (D/BMD) patients across Gujarat. Moreover, in this study we also correlate the same with reading frame rule. However, we too consider various clinicopathological features to establish as adjunct indices when deletion detection fails.Materials and Methods:In this pilot study, a total of 88 D/BMD patients consulting at our centers in Gujarat, India were included. All patients were reviewed on basis of their clinical characteristics, tested by three primer sets of 10-plex, 9-plex, and 7-plex polymerase chain reaction (PCR) for genetic analysis; whereas, biochemical indices were measured using automated biochemical analyzers.Results:The diagnosis of D/BMD was confirmed by multiplex-PCR (M-PCR) in D/BMD patients. A number of 65 (73.86%) out of 88 patients showed deletion in dystrophin gene. The exon 50 (58.46%) was the most frequent deletion found in our study. The mean age of onset of DMD and BMD was 4.09 ± 0.15 and 7.14 ± 0.55 years, respectively. In patients, mean creatine phosphokinase (CPK), lactate dehydrogenase (LDH), and myoglobin levels were elevated significantly (P < 0.05) in comparison to controls. Addition to CPK, LDH and myoglobin are good adjunct when deletion detection failed. These data are further in accordance with world literature when correlated with frame rule.Conclusion:The analysis has been carried out for the first time for a total of 88 D/BMD patients particularly from Gujarat, India. More research is essential to elucidate specific mutation pattern in association with management and therapies of proband.

show abstract

Section: Discussionmentioning

confidence: 72%

Section: Introductionmentioning

confidence: 99%

Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India

Rao

Sindhav

Mehta³

2014

Ann Indian Acad Neurol

View full text Add to dashboard Cite

show abstract

“…[ 17 ] worked on 70 samples from eastern Indian population, of which 46 patients showed large intragenic deletions in dystrophin gene. Dastur et al .,[ 18 ] in 2008, worked on 347 samples from Western India. Of this, 46 were patients of BMD, and all showed deletions in dystrophin gene.…”

Section: Discussionmentioning

confidence: 99%

“…Of this, 46 were patients of BMD, and all showed deletions in dystrophin gene. [ 18 ] Swaminathan et al .,[ 19 ] in 2009, tested 112 patients from southern India. A total of 101 patients were confirmed for DMD by histopathology and genetics test analysis.…”

Section: Discussionmentioning

confidence: 99%

Study of dystrophinopathy in eastern Uttar Pradesh population of India

et al. 2018

View full text Add to dashboard Cite

Introduction:The frequency and distribution of dystrophin gene deletions vary in patients with Duchene/Becker muscular dystrophy (DMD/BMD).Objective:In this study, we aimed to analyze clinical, biochemical, and dystrophin gene deletion pattern, by using multiplex polymerase chain reaction (PCR) in the population of eastern Uttar Pradesh and the adjoining districts of Bihar and Madhya Pradesh.Material and Method:After clinical assessment, 225 patients of DMD/BMD were analyzed for deletion in dystrophin gene. Clinical features and biochemical parameters were noted. For genetic study, all samples were tested for deletion from 25 exons of DMD gene by using multiplex PCR.Result:Deletions were detected in 169 (75.1%) patients of DMD/BMD. Deletions were observed in both proximal and mid-distal hot spot regions with maximum deletion localized in the mid-distal hot spot region of the gene. The most frequent deletions were observed in exon 50 (14.9%) and exon 49 (10.8%).Conclusion:This study concludes that mid-distal region of dystrophin is highly polymorphic in the population of eastern Uttar Pradesh and responsible for pathogenesis of DMD. The population of eastern Uttar Pradesh shows similar pattern of deletion in dystrophin gene when compared with other ethnic groups of the Indian population.

show abstract

“…(1993) also reported a DMD 45–47 deletion patient as intermediate, while Dastur et al. (2008) described two of 16 patients with deletion of exons 45–47 as DMD, the remaining 14 patients are documented as BMD.…”

Section: Introductionmentioning

confidence: 99%

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

Greer

Mizzi

Rice

et al. 2015

Molec Gen & Gen Med

View full text Add to dashboard Cite

We report a dystrophinopathy patient with an in-frame deletion of DMD exons 45–47, and therefore a genetic diagnosis of Becker muscular dystrophy, who presented with a more severe than expected phenotype. Analysis of the patient DMD mRNA revealed an 82 bp pseudoexon, derived from intron 44, that disrupts the reading frame and is expected to yield a nonfunctional dystrophin. Since the sequence of the pseudoexon and canonical splice sites does not differ from the reference sequence, we concluded that the genomic rearrangement promoted recognition of the pseudoexon, causing a severe dystrophic phenotype. We characterized the deletion breakpoints and identified motifs that might influence selection of the pseudoexon. We concluded that the donor splice site was strengthened by juxtaposition of intron 47, and loss of intron 44 silencer elements, normally located downstream of the pseudoexon donor splice site, further enhanced pseudoexon selection and inclusion in the DMD transcript in this patient.

show abstract

Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns

Abstract: This significant gene deletion analysis has been carried out for BMD patients particularly from Western India using 32 exons.

Cited by 15 publications

References 15 publications

Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India

Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India

Study of dystrophinopathy in eastern Uttar Pradesh population of India

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

Contact Info

Product

Resources

About