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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Autores principales:	Komal M. Patel, Arpan D. Bhatt, Krati Shah, Bhargav N. Waghela, Ramesh J. Pandit, Harsh Sheth, Chaitanya G. Joshi, Madhvi N. Joshi
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	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) Genetics QH426-470
Acceso en línea:	https://doaj.org/article/025c76eb055f49bcbb585df93cbd9868
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spelling	oai:doaj.org-article:025c76eb055f49bcbb585df93cbd98682021-12-03T11:49:07ZMolecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing1664-802110.3389/fgene.2021.770350https://doaj.org/article/025c76eb055f49bcbb585df93cbd98682021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.770350/fullhttps://doaj.org/toc/1664-8021Muscular 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.Komal M. PatelArpan D. BhattKrati ShahBhargav N. WaghelaRamesh J. PanditHarsh ShethChaitanya G. JoshiMadhvi N. JoshiFrontiers Media S.A.articlenext generation sequencing (NGS)multiplex ligation-dependent probe amplification (MLPA)duchenne muscular dystrophy (DMD)becker muscular dystrophy (BMD)limb-girdle muscular dystrophiescongenital muscular dystrophies (CMDs)GeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
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) Genetics QH426-470
spellingShingle	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) Genetics QH426-470 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
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.
format	article
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
title	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_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_sort	molecular diagnosis of muscular dystrophy patients in western indian population: a comprehensive mutation analysis using amplicon sequencing
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/025c76eb055f49bcbb585df93cbd9868
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Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

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