What question did this study set out to answer?

This review aims to clarify the complex genetic architecture of autism spectrum disorder (ASD) and its implications for molecular diagnosis.

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics

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Review highlights genetic factors underlying autism spectrum disorder, indicating implications for clinical genetics.

This review aims to clarify the complex genetic architecture of autism spectrum disorder (ASD) and its implications for molecular diagnosis.
Summarized findings from clinical and research databases.
Reviewed genetic causes such as chromosomal abnormalities, CNVs, and SNVs.
Discussed genomic approaches including array-CGH, WES, and WGS.
Identified multiple risk genes associated with ASD, including CHD8, SHANK3, and SCN2A.
Highlighted the role of environmental influences and epigenetic regulation.
Described challenges in molecular diagnosis due to complex genetic factors.

Treccarichi et al. (2026) studied this question.

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