Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is characterized by high heritability estimates and recurrence rates; its genetic underpinnings are very heterogeneous and include variable combinations of common and rare variants. Array-comparative genomic hybridization (aCGH) offers significant sensitivity for the identification of copy number variants (CNVs), which can act as susceptibility or causal factors for ASD.

Methods

The aim of this study was to evaluate both diagnostic yield and clinical impact of aCGH in 329 ASD patients of Italian descent.

Results

Pathogenic/likely pathogenic CNVs were identified in 50/329 (15.2%) patients, whereas 89/329 (27.1%) carry variants of uncertain significance. The 10 most enriched gene sets identified by Gene Ontology Enrichment Analy

SUBMITTER: Cucinotta F 

PROVIDER: S-EPMC10422062 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature