Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing
Muscular Dystrophies (MDs) are a group of inherited diseases and heterogeneous in nature. To date, 40 different genes have been reported for the occurrence and/or progression of MDs. This study was conducted to demonstrate the application of next-generation sequencing (NGS) in developing a time-savi...
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Frontiers Media S.A.
2021-12-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.770350/full |
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| author | Komal M. Patel Arpan D. Bhatt Krati Shah Bhargav N. Waghela Ramesh J. Pandit Harsh Sheth Chaitanya G. Joshi Madhvi N. Joshi |
| author_facet | Komal M. Patel Arpan D. Bhatt Krati Shah Bhargav N. Waghela Ramesh J. Pandit Harsh Sheth Chaitanya G. Joshi Madhvi N. Joshi |
| author_sort | Komal M. Patel |
| collection | DOAJ |
| description | Muscular Dystrophies (MDs) are a group of inherited diseases and heterogeneous in nature. To date, 40 different genes have been reported for the occurrence and/or progression of MDs. This study was conducted to demonstrate the application of next-generation sequencing (NGS) in developing a time-saving and cost-effective diagnostic method to detect single nucleotide variants (SNVs) and copy number variants (CNVs) in a single test. A total of 123 cases clinically suspected of MD were enrolled in this study. Amplicon panel-based diagnosis was carried out for 102 (DMD/BMD) cases and the results were further screened using multiplex ligation-dependent probe amplification (MLPA). Whilst in the case of LGMD (N = 19) and UMD (N = 2), only NGS panel-based analysis was carried out. We identified the large deletions in 74.50% (76/102) of the cases screened with query DMD or BMD. Further, the large deletion in CAPN3 gene (N = 3) and known SNV mutations (N = 4) were identified in LGMD patients. Together, the total diagnosis rate for this amplicon panel was 70.73% (87/123) which demonstrated the utility of panel-based diagnosis for high throughput, affordable, and time-saving diagnostic strategy. Collectively, present study demonstrates that the panel based NGS sequencing could be superior over to MLPA. |
| first_indexed | 2024-12-21T08:27:02Z |
| format | Article |
| id | doaj.art-025c76eb055f49bcbb585df93cbd9868 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-21T08:27:02Z |
| publishDate | 2021-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-025c76eb055f49bcbb585df93cbd98682022-12-21T19:10:18ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-12-011210.3389/fgene.2021.770350770350Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon SequencingKomal M. Patel0Arpan D. Bhatt1Krati Shah2Bhargav N. Waghela3Ramesh J. Pandit4Harsh Sheth5Chaitanya G. Joshi6Madhvi N. Joshi7Gujarat Biotechnology Research Centre, Department of Science and Technology, Government of Gujarat, Gandhinagar, IndiaGujarat Biotechnology Research Centre, Department of Science and Technology, Government of Gujarat, Gandhinagar, IndiaONE-Centre for Rheumatology and Genetics, Vadodara, IndiaGujarat Biotechnology Research Centre, Department of Science and Technology, Government of Gujarat, Gandhinagar, IndiaGujarat Biotechnology Research Centre, Department of Science and Technology, Government of Gujarat, Gandhinagar, IndiaFoundation for Research in Genetics and Endocrinology (FRIGE), Ahmedabad, IndiaGujarat Biotechnology Research Centre, Department of Science and Technology, Government of Gujarat, Gandhinagar, IndiaGujarat Biotechnology Research Centre, Department of Science and Technology, Government of Gujarat, Gandhinagar, IndiaMuscular Dystrophies (MDs) are a group of inherited diseases and heterogeneous in nature. To date, 40 different genes have been reported for the occurrence and/or progression of MDs. This study was conducted to demonstrate the application of next-generation sequencing (NGS) in developing a time-saving and cost-effective diagnostic method to detect single nucleotide variants (SNVs) and copy number variants (CNVs) in a single test. A total of 123 cases clinically suspected of MD were enrolled in this study. Amplicon panel-based diagnosis was carried out for 102 (DMD/BMD) cases and the results were further screened using multiplex ligation-dependent probe amplification (MLPA). Whilst in the case of LGMD (N = 19) and UMD (N = 2), only NGS panel-based analysis was carried out. We identified the large deletions in 74.50% (76/102) of the cases screened with query DMD or BMD. Further, the large deletion in CAPN3 gene (N = 3) and known SNV mutations (N = 4) were identified in LGMD patients. Together, the total diagnosis rate for this amplicon panel was 70.73% (87/123) which demonstrated the utility of panel-based diagnosis for high throughput, affordable, and time-saving diagnostic strategy. Collectively, present study demonstrates that the panel based NGS sequencing could be superior over to MLPA.https://www.frontiersin.org/articles/10.3389/fgene.2021.770350/fullnext generation sequencing (NGS)multiplex ligation-dependent probe amplification (MLPA)duchenne muscular dystrophy (DMD)becker muscular dystrophy (BMD)limb-girdle muscular dystrophiescongenital muscular dystrophies (CMDs) |
| spellingShingle | Komal M. Patel Arpan D. Bhatt Krati Shah Bhargav N. Waghela Ramesh J. Pandit Harsh Sheth Chaitanya G. Joshi Madhvi N. Joshi Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing Frontiers in Genetics next generation sequencing (NGS) multiplex ligation-dependent probe amplification (MLPA) duchenne muscular dystrophy (DMD) becker muscular dystrophy (BMD) limb-girdle muscular dystrophies congenital muscular dystrophies (CMDs) |
| title | Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing |
| title_full | Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing |
| title_fullStr | Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing |
| title_full_unstemmed | Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing |
| title_short | Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing |
| title_sort | molecular diagnosis of muscular dystrophy patients in western indian population a comprehensive mutation analysis using amplicon sequencing |
| topic | next generation sequencing (NGS) multiplex ligation-dependent probe amplification (MLPA) duchenne muscular dystrophy (DMD) becker muscular dystrophy (BMD) limb-girdle muscular dystrophies congenital muscular dystrophies (CMDs) |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2021.770350/full |
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