PARK2 microdeletion in a multiplex family with Autism Spectrum Disorder.

Rita BaroneLara CirnigliaroLucia SaccuzzoSilvia ValdeseFabio PettinatoAdriana PratoLaura BernardiniMarco FicheraRenata Rizzo

Published in: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience (2022)

The study corroborates the hypothesis that PARK2 aberrations may be associated with ASD and highlights correlations between CNV affecting PARK2 and ASD in a multiplex family. We show remarkable intrafamilial variability in the severity of inherited ASD associated with PARK2 microdeletion.

Keyphrases

autism spectrum disorder
attention deficit hyperactivity disorder
high throughput
real time pcr
copy number
single cell
genome wide