Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population
Abstract Neuromuscular diseases (NMD) are a group of neurological diseases that manifest with various clinical symptoms affecting different components of the peripheral nervous system, which play a role in voluntary body movements control. The primary objective of this study is to explore the diagno...
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Nature Portfolio
2025-01-01
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| Series: | Scientific Reports |
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| Online Access: | https://doi.org/10.1038/s41598-024-81744-w |
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| author | Abdullah Al-Hedaithy Fouad Alghamdi Momen Almomen Fawzia Amer Shaikhah Al Dossari Deeba Noreen Baig Shahid Bashir |
| author_facet | Abdullah Al-Hedaithy Fouad Alghamdi Momen Almomen Fawzia Amer Shaikhah Al Dossari Deeba Noreen Baig Shahid Bashir |
| author_sort | Abdullah Al-Hedaithy |
| collection | DOAJ |
| description | Abstract Neuromuscular diseases (NMD) are a group of neurological diseases that manifest with various clinical symptoms affecting different components of the peripheral nervous system, which play a role in voluntary body movements control. The primary objective of this study is to explore the diagnostic efficacy of a combined genetic and biochemical testing approach for patients with neuromuscular diseases with diverse presentations in a population with high rate of consanguinity. Genetic testing was performed using selected Next Generation Sequencing (NGS) gene panels and whole exome sequencing on the peripheral blood sample from the patients. The study results revealed that the majority of patients in our cohort had a history of consanguinity (83%). Genetic testing through gene panels and Whole Exome Sequencing yielded similar result. Out of the patients tested, 66% underwent gene panels testing, 56% had Whole Exome Sequencing, 32% received array Comparative Genomic Hybridization (CGH) assays, and 40% underwent metabolic testing. Overall, 58 patients (61%) received definitive results after following all tests. Among the remaining 36 patients, 19 exhibited variants of unknown significance (VOUS) (21%). |
| format | Article |
| id | doaj-art-f2bcc271b63a446b993745586ec03baf |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-f2bcc271b63a446b993745586ec03baf2025-01-05T12:21:45ZengNature PortfolioScientific Reports2045-23222025-01-011511910.1038/s41598-024-81744-wComparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous populationAbdullah Al-Hedaithy0Fouad Alghamdi1Momen Almomen2Fawzia Amer3Shaikhah Al Dossari4Deeba Noreen Baig5Shahid Bashir6Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist HospitalDepartment of Pediatric Neurology, Neuroscience Center, King Fahad Specialist HospitalDepartment of Pediatric Neurology, Neuroscience Center, King Fahad Specialist HospitalDepartment of Pediatric Neurology, Neuroscience Center, King Fahad Specialist HospitalNeuroscience Center, King Fahad Specialist HospitalSchool of Life Sciences, Forman Christian College (A Chartered University) LahoreNeuroscience Center, King Fahad Specialist HospitalAbstract Neuromuscular diseases (NMD) are a group of neurological diseases that manifest with various clinical symptoms affecting different components of the peripheral nervous system, which play a role in voluntary body movements control. The primary objective of this study is to explore the diagnostic efficacy of a combined genetic and biochemical testing approach for patients with neuromuscular diseases with diverse presentations in a population with high rate of consanguinity. Genetic testing was performed using selected Next Generation Sequencing (NGS) gene panels and whole exome sequencing on the peripheral blood sample from the patients. The study results revealed that the majority of patients in our cohort had a history of consanguinity (83%). Genetic testing through gene panels and Whole Exome Sequencing yielded similar result. Out of the patients tested, 66% underwent gene panels testing, 56% had Whole Exome Sequencing, 32% received array Comparative Genomic Hybridization (CGH) assays, and 40% underwent metabolic testing. Overall, 58 patients (61%) received definitive results after following all tests. Among the remaining 36 patients, 19 exhibited variants of unknown significance (VOUS) (21%).https://doi.org/10.1038/s41598-024-81744-wNeuromuscular diseasesGenetic testingMetabolic profilingConsanguineous populationGene panelsWhole genome sequencing |
| spellingShingle | Abdullah Al-Hedaithy Fouad Alghamdi Momen Almomen Fawzia Amer Shaikhah Al Dossari Deeba Noreen Baig Shahid Bashir Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population Scientific Reports Neuromuscular diseases Genetic testing Metabolic profiling Consanguineous population Gene panels Whole genome sequencing |
| title | Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population |
| title_full | Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population |
| title_fullStr | Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population |
| title_full_unstemmed | Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population |
| title_short | Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population |
| title_sort | comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population |
| topic | Neuromuscular diseases Genetic testing Metabolic profiling Consanguineous population Gene panels Whole genome sequencing |
| url | https://doi.org/10.1038/s41598-024-81744-w |
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