Topic: Primrose syndrome

This study explores the link between Autism Spectrum Disorder (ASD) and the transcriptional factor zinc finger and BTB domain-containing protein 20 (ZBTB20), known for its role in Primrose syndrome and ASD. We used a ZBTB20 haploinsufficient mouse model to demonstrate an autism-like phenotype, including impaired sociability, reduced vocalization, repetitive behavior, cognitive inflexibility, hyperactivity, and reduced sensitivity to pain. For the first time, MRI scans were conducted in an animal model, revealing structural changes in the brain, specifically in the hippocampus and cerebellum. I