Molecular characteristics

Most PIK3R2 mutations identified to date are de novo. However, mosaic mutations and rare instances of autosomal dominant inheritance have been reported. PIK3R2 mutations are hypothesized to be associated with Gain of Function (GOF) of PI3K-AKT-MTOR pathway activity. The mutational spectrum of PIK3R2 mutations is narrow with most identified mutations involving amino acid residue 373 (p.G373R), with a second mutation (p.E376K) identified in a small number of individuals.