Parents

PIGM deficiency is a rare genetic disease characterized by epilepsy (often absence seizure), and cerebrovascular or portal vein thrombosis. It is caused by germline mutations in the promoter region of PIGM gene which is essential for glycosylphosphatidylinositol (GPI) anchor biosynthesis. Cell surface protein can be attached to the cell membrane via GPI anchor, and so mutations in promoter region of PIGM caused the decreased expression of PIGM protein, leading to decreased levels of GPI-anchored proteins. GPI-anchored proteins play vital roles in numerous biological processes. The prevalence of PIGM deficiency is unknown as it is recently recognized disease and there have been four independent families with the same mutation reported.