Academic Journal
Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.
| Τίτλος: | Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study. |
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| Συγγραφείς: | Khoodoruth MAS; Child and Adolescent Mental Health Service, Hamad Medical Corporation, Doha, Qatar.; Division of Genomics and Precision Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Education City, Doha, Qatar., Chut-Kai Khoodoruth WN; Centre of Disease Control and Prevention Department, Hamad Medical Corporation, Doha, Qatar., Alabdulla M; Mental Health Service, Hamad Medical Corporation, Doha, Qatar.; College of Medicine, Qatar University, Doha, Qatar., Khan YS; Child and Adolescent Mental Health Service, Hamad Medical Corporation, Doha, Qatar. |
| Πηγή: | The Journal of genetic psychology [J Genet Psychol] 2025 Jul-Aug; Vol. 186 (4), pp. 317-329. Date of Electronic Publication: 2025 Feb 06. |
| Τύπος έκδοσης: | Journal Article; Case Reports |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Psychology Press Country of Publication: United States NLM ID: 2985112R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-0896 (Electronic) Linking ISSN: 00221325 NLM ISO Abbreviation: J Genet Psychol Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2010- : Philadelphia : Psychology Press Original Publication: Provincetown, Mass. : Journal Press |
| Ιατρικοί όροι (MeSH): | Autism Spectrum Disorder*/genetics , Autism Spectrum Disorder*/diagnosis , Comparative Genomic Hybridization*/methods, Humans ; Male ; Child ; Qatar |
| Περίληψη: | Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with rising prevalence. Traditional diagnostic approaches often lack biological markers, making precision in diagnosis challenging. This study explores the role of array Comparative Genomic Hybridization (aCGH) in improving diagnostic accuracy for ASD. Five clinical vignettes of children diagnosed with ASD via DSM-5 or ADOS-2 were evaluated at a child and adolescent psychiatry clinic. Genome-wide oligonucleotide aCGH analysis was conducted using the Human Genome CGH Microarray kit (OGT), containing approximately 180,000 probes with 30-37 kb spacing based on the GRCh37 build. Fragile X syndrome was excluded using the Asuragen Amplidex PCR/CE FMR1 kit. The case series included boys aged 8-11 from diverse ethnic backgrounds (Asian, African, and Qatari), all presenting with varying degrees of ASD. Genetic analyses revealed significant chromosomal changes affecting eight genes, SHOX, HNF1B, COH1, AHNAK, DOCK8, TIAM1, TBL1XR1, and ALKBH8, highlighting diverse genetic contributions to ASD. These findings encompassed both chromosomal gains and losses, as well as variants of uncertain significance (VUS). The aCGH analyses provided valuable genetic insights, refining the diagnostic process and informing personalized management strategies for ASD. This suggests that aCGH is a useful tool in identifying clinically relevant genetic variations, particularly in settings with limited resources, where other diagnostic modalities may be less accessible. |
| Contributed Indexing: | Keywords: Comparative genomic hybridization; DNA microarray; autism spectrum disorder; precision psychiatry |
| Entry Date(s): | Date Created: 20250206 Date Completed: 20250630 Latest Revision: 20250708 |
| Update Code: | 20260130 |
| DOI: | 10.1080/00221325.2025.2454309 |
| PMID: | 39913128 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1940-0896 |
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| DOI: | 10.1080/00221325.2025.2454309 |