De novo missense variants in the PIK3CA gene have been identified in ASD probands from multiple cohorts, including the Simons Simplex Collection, the MSSNG cohort, and the iHART cohort (Turner et al., 2016; Yuen et al., 2017; Takata et al., 2018; Ruzzo et al., 2019). Whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder in Yeung et al., 2017 identified three patients with PIK3CA variants; all three patients presented with macrocephaly and global developmental delay, and one of these patients was also diagnosed with autism spectrum disorder.
Molecular Function
Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
