Diagnostic Yield of Whole Exome Sequencing in Autism Spectrum Disorder Patients at a Tertiary Center in…

Cohort studyJournal of autism and developmental disorders· Aug 2026

Diagnostic Yield of Whole Exome Sequencing in Autism Spectrum Disorder Patients at a Tertiary Center in Saudi Arabia.

Abdulaziz Alasiri, Basmah Al-Jabri, Musaed Abukhaled … Anas Alyazidi

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Child NeurologyCohort studyDiagnosisQ1IF 4.2

Whole-exome sequencing found a genetic diagnosis in 30% of Saudi children with autism spectrum disorder

Diagnostic Yield of Whole Exome Sequencing in Autism Spectrum Disorder Patients at a Tertiary Center in Saudi Arabia.

Abdulaziz Alasiri … Anas Alyazidi

Journal of autism and developmental disorders · Aug 2026

Background

Autism spectrum disorder (autism spectrum disorder) is a clinically and genetically heterogeneous neurodevelopmental condition.

Purpose

This study aimed to determine the diagnostic yield and characterize the genetic spectrum identified by WES in a pediatric autism spectrum disorder cohort from Saudi Arabia.

Methods

We conducted a retrospective cohort study of 288 children (< 14 years) with DSM‑5‑confirmed autism spectrum disorder who underwent clinical WES at a tertiary center between 2021 and 2024.

n = 288 children

Results

whole-exome sequencing found a genetic cause in about a third of these children

30%

Pathogenic/likely path

22%

Variants of uncertain

More results

Variants of uncertain significance were identified in 22% (63/288) of patients.

Recurrently affected genes included SHANK3, SCN2A, SYNGAP1, CAMK2A, GRIN2B, and CNTNAP2.

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Conclusion · 1 of 3

WES provided a molecular diagnosis in 30% of this Saudi autism spectrum disorder cohort.

Conclusion · 2 of 3

The identification of GFAP variants raises the hypothesis that astrocytic dysfunction may play a role in a subset of autism spectrum disorder cases, though this finding requires independent replication and functional validation.

Conclusion · 3 of 3

These results underscore the clinical utility of WES and highlight the need for population‑specific genomic resources.

Diagnostic Yield of Whole Exome Sequencing in Autism Spectrum Disorder Patients at a Tertiary Center in Saudi Arabia.

Diagnostic Yield of Whole Exome Sequencing in Autism Spectrum Disorder Patients at a Tertiary Center in Saudi Arabia.

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