Parents

PIGW deficiency is a rare genetic disease characterized by intellectual disability, developmental delay, severe encephalopathy, an early-onset epilepsy such as West syndrome, facial dysmorphism, organ anomalies, brachyphalangy, hypotonia, contractures and hyperphosphatasia. It is caused by germline mutations in the PIGW 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 PIGW 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 PIGW deficiency is unknown as it is recently recognized disease, but there have been 11 patients reported.