ArticleJournal of autism and developmental disorders2026
Diagnostic Yield of Whole Exome Sequencing in Autism Spectrum Disorder Patients at a Tertiary Center in Saudi Arabia.
Article in Journal of autism and developmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
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Authors and funding
9 authors.
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Abstract
purposeAutism spectrum disorder (ASD) is a clinically and genetically heterogeneous neurodevelopmental condition. Whole‑exome sequencing (WES) is a pivotal diagnostic tool, though its yield varies across populations. This study aimed to determine the diagnostic yield and characterize the genetic spectrum identified by WES in a pediatric ASD cohort from Saudi Arabia.
methodsWe conducted a retrospective cohort study of 288 children (< 14 years) with DSM‑5‑confirmed ASD who underwent clinical WES at a tertiary center between 2021 and 2024. Variants were classified according to ACMG/AMP guidelines.
resultsThe overall diagnostic yield for pathogenic or likely pathogenic variants was 30% (86/288). Variants of uncertain significance were identified in 22% (63/288) of patients. Recurrently affected genes included SHANK3, SCN2A, SYNGAP1, CAMK2A, GRIN2B, and CNTNAP2. Notably, variants in GFAP, a gene primarily associated with Alexander disease, were found in six patients presenting with ASD, macrocephaly, and developmental delay.
conclusionsWES provided a molecular diagnosis in 30% of this Saudi ASD cohort. The identification of GFAP variants raises the hypothesis that astrocytic dysfunction may play a role in a subset of ASD cases, though this finding requires independent replication and functional validation. These results underscore the clinical utility of WES and highlight the need for population‑specific genomic resources.
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