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Comparative Study
. 2025 Jan 2;15(1):231.
doi: 10.1038/s41598-024-81744-w.

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population

Abdullah Al-Hedaithy  1 , Fouad Alghamdi  2 , Momen Almomen  2 , Fawzia Amer  2   3 , Shaikhah Al Dossari  4 , Deeba Noreen Baig  5 , Shahid Bashir  4   6
Affiliations
Comparative Study

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population

Abdullah Al-Hedaithy et al. Sci Rep. .

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%).

Keywords: Clinical manifestations; Consanguineous population; Gene panels; Genetic testing; Metabolic profiling; Neuromuscular diseases; Whole genome sequencing.

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Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests. Ethics approval and consent to participate: Informed consent was obtained from all subjects and/or their legal guardian(s) for participation. The study was carried out in accordance with the code of international and local Ethics (Declaration of Helsinki). This study was reviewed and approved by the local ethics committee of the King Fahad Specialist Hospital Dammam (Dammam, Saudi Arabia). Patient consent for publication: The parents of the patient provided written informed consent for publication. Ethical publication statement: We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

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