Deletion Involving the 7q31-32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress.
Paulo André Pera GrabowskiAlexandre Ferreira BelloDiogo Lima RodriguesMurilo José ForbeciVinicius MotterSalmo RaskinPublished in: Case reports in psychiatry (2017)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by impairments in social functioning, language, communication, and behavior. Recent genome-wide association studies show some microdeletions on the 7q31-32 region, including the CADPS2 locus in autistic patients. This paper reports the case of a patient with ASD and recurrent psychotic syndrome, in which a deletion on the 7q31-32 band at the CADPS2 gene locus was evidenced, as well as a brief review of the literature on the CADPS2 gene and its association with ASD.
Keyphrases
- autism spectrum disorder
- case report
- attention deficit hyperactivity disorder
- intellectual disability
- copy number
- genome wide
- end stage renal disease
- bipolar disorder
- genome wide identification
- genome wide association
- chronic kidney disease
- ejection fraction
- healthcare
- newly diagnosed
- mental health
- genome wide association study
- gene expression
- stress induced
- patient reported outcomes
- working memory
- emergency department
- congenital heart disease
- heat stress