The diagnostic yield of CGH and WES in neurodevelopmental disorders.

Autor:	Alotibi RS; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., Sannan NS; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Jeddah, Saudi Arabia., AlEissa M; Department of Molecular Genetics, Public Health Laboratory, Public Health Authority, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Aldriwesh MG; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., Al Tuwaijri A; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia., Akiel MA; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., Almutairi M; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia., Alsamer A; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia., Altharawi N; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia., Aljawfan G; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia., Alotiabi B; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., AlBlawi MA; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia., Alfares A; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Center for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.
Jazyk:	angličtina
Zdroj:	Frontiers in pediatrics [Front Pediatr] 2023 Mar 01; Vol. 11, pp. 1133789. Date of Electronic Publication: 2023 Mar 01 (Print Publication: 2023).
DOI:	10.3389/fped.2023.1133789
Abstrakt:	Background: Neurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent years, the development of high-resolution technologies has played an important role in revealing the microdeletions, microduplications, and single-nucleotide variants of the chromosomes and how they are linked to the development of neurodevelopmental disorders. The wide implementation and application of molecular methodologies have started to shed light on the functional importance of using the appropriate methods in detecting these genetic variations that are categorized as either pathogenic or benign. The study aimed to compare the diagnostic yield of comparative hybridization (CGH) and whole exome sequencing (WES) in neurodevelopmental disorders among children attending the King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia. Methods: A retrospective study was conducted between 2015 and 2018 on 105 patients diagnosed with neurodevelopmental disorders through array-based CGH (Array-CGH) and WES. Results: In a sample of 105 patients, 16% was the hit rate of copy number variations (CNVs). WES was requested for CNV-negative patients ( n  = 79), of which 30% was the hit rate of pathogenic or likely pathogenic single-nucleotide variants. There was a difference in the diagnostic yield between CGH (16%) and WES (30%). Conclusion: WES was a better approach than Array-CGH to detect various DNA mutations or variants. Our findings could guide clinicians, researchers, and testing laboratories select the most cost-effective and appropriate approach for diagnosing their patients. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2023 Alotibi, Sannan, AlEissa, Aldriwesh, Al Tuwaijri, Akiel, Almutairi, Alsamer, Altharawi, Aljawfan, Alotiabi, AlBlawi and Alfares.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu