CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.
Silvia AnnunziataSara BulgheroniStefano D'ArrigoSilvia EspositoMatilde TaddeiVeronica SalettiEnrico AlfeiFrancesca Luisa SciaccaAmbra RizzoChiara PantaleoniDaria RivaPublished in: Journal of autism and developmental disorders (2021)
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75 patients, 11 classified as pathogenic. The complex ASD subjects have higher frequency of pathogenic CNVs with a diagnostic yield of 12.8%. Familiality, cognitive and verbal abilities, severity of autistic symptoms, neuroimaging and neurophysiological findings are not related to genetic data. This study identifies loci of interest for ASD and highlights the importance of a careful phenotypic characterization, as complex ASD is related to higher rate of pathogenic CNVs.
Keyphrases
- autism spectrum disorder
- copy number
- genome wide
- mitochondrial dna
- attention deficit hyperactivity disorder
- intellectual disability
- dna methylation
- end stage renal disease
- spectrum disorder
- ejection fraction
- chronic kidney disease
- young adults
- high resolution
- prognostic factors
- gene expression
- peritoneal dialysis
- working memory
- big data
- mass spectrometry
- artificial intelligence
- electronic health record
- single molecule
- congenital heart disease
- high throughput