Parents

PIGN deficiency is a rare genetic disease characterized by intellectual disability, developmental delay, and epilepsy, sometimes with gastrointestinal and cardiac involvement. It is caused by germline mutations in the PIGN gene, which is important for glycosylphosphatidylinositol (GPI) anchor biosynthesis. Cell surface protein can be attached to the cell membrane via GPI anchor, and so mutations in PIGN lead to the decreased levels of GPI-anchored proteins. GPI-anchored proteins play vital roles in numerous biological processes, such as neuronal development. The prevalence of PIGN deficiency is unknown as it is recently recognized disease, but there have been over 40 patients reported.