Catalogue Generation of DMD Mutation Database
Collated Data of DMD Mutations Reported in Pakistani Patients
| Sr.# | Year of Publication | No. of Cases Reported | Total % Age Of Deletions | Deletion % Age in Proximal Region | Deletion % Age in Distal Region | Total % Age Of Duplications | Technique Used for Identification | Disease Severity | References/ DOI’s |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 1994 | 2 | - | - | - | - | Muscle Biopsy Based study | Mild | (Sewry, Sansome, Matsumura, Campbell, & Dubowitz, 1994) https://doi.org/10.1016/0960-8966(94)90003-5 |
| 2 | 2011 | 6 fam | - | - | - | - | PCR, SCK analysis | Mild | (Hashim, Shaheen, Ahmad, Sattar, & Khan, 2011) https://pubmed.ncbi.nlm.nih.gov/22830166/ |
| 3 | 2008 | 211 | 86 cases (40.75%) | 5 patients (40.69%) | 51 patients (59.30%) | Not commented | PCR with 18 primer pairs | Severe | (Hassan et al., 2008) https://doi.org/10.1111/j.1442200X.2008.02538.x |
| 4 | 2017 | 9 | 8 (90%) F (20 %) M (70%) |
More proximal | Less distal | Not commented | MPCR with 16 sets of primers | Severe | (Rahim, 2017) http://www.iraj.in/journal/journal_file/journal_pd f/6-406-151141926749-55.pdf |
| 5 | 2018 | 1 | het del in exons 49-50 | Not commented | Not commented | Not commented | MLPA | Mild (Becker MD) | (Asghar Nasir, Munim, Imam, & Hasan) https://ideas.repec.org/a/abf/journl/v12y2018i3p1 -3.html |
| 6 | 2018 | 68 (3% Pakistani) | 66.2% | Not commented | Not commented | 4.4% | Multiplex PCR/MLPA | Severe | (Mohammed et al., 2018) https://journals.plos.org/plosone/article?id=10.13 71/journal.pone.0197205 |
| 7 | 2019 | 46 44 (M) 2 (F) |
40 | exons 45 and 52 | exons 8 and 18 | 6 cases exons 3 and 7 | MLPA | Mild | (Ansar et al., 2019) https://doi.org/10.1089/gtmb.2018.0262 |
| 8 | 2019 | 92 85 (M) & 7 (F) |
38 cases (45%) | M= 44 (52%) 2/7 F (30%) |
Not commented | 6 cases (7%) | MLPA | Mild | (Ahmed, 2019) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC 6752354/ |
| 9 | 2021 | 3 | 4 missense variants | 1 nonsense variant | Not commented | Not commented | WES, Sanger sequencing | Severe | (Zehravi, Wahid, Ashraf, & Fatima, 2021) https://doi.org/10.1089/gtmb.2020.0246 |
| 10 | 2021 | 2 | no deletions | Not commented | Not commented | Not commented | PCR, Sequencing | Mild | (Khan et al., 2021) https://readersinsight.net/PJMLS/article/view/212 0 |
| 11 | 2023 | 60 | 32 cases (56%) Exons 45-52 | Not commented | (43%) | 10 cases (17.5%) Exon 3-7 | MLPA | Severe | (Rafique et al., 2023) https://doi.org/10.56310/pjns.v18i01.231 |
This data has been collected by Ms.Rabiya Sultana, Mphil Student whose research
title is "Screening of DMD hospot mutations in clinically diagnosed Muscular Dystrophy patients" in the year 2023.
University Institute of Biochemistry and Biotechnology
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