Kacie J. Meyer

TL;DR: Several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls, and duplications 55 kilobases upstream of complementary DNA AK123120 indicate that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.

TL;DR: Mutation analysis of a patient with aniridia, autism and mental retardation is presented and a 1.3 Mb deletion is identified that disrupts PAX6 transcriptional activity and deletes additional genes expressed in the brain.

TL;DR: It is shown that mice with disruption in Prickle2 display behavioral abnormalities including altered social interaction, learning abnormalities and behavioral inflexibility, and disruptions in non-canonical Wnt genes such as PRICKLE2 may contribute to synaptic abnormalities underlying ASDs.

TL;DR: The sum of the clinical and histological observations is consistent with ketamine/xylazine-induced band keratopathy in mice, which is relevant for mouse studies involving the eye and/or vision-dependent behavioral assays, which would both be prone to artifact without appreciation of the damage caused by ketamine or xylazine anesthesia.

TL;DR: The data suggest that rare and potentially pathogenic microdeletions and duplications may have a substantially higher prevalence inChildren with autism and additional developmental anomalies than in children with autism alone.