Two de novo variants (a missense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) were observed in the PPP2R1B gene in ASD probands (Sanders et al., 2012; Fromer et al., 2014). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 9.60E-04 (Takata et al., 2016).
This gene encodes for the PR65 subunit of protein phosphatase 2A, which serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit.
Type of Disorder
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.