Families

There is a group of cell surface proteins, called glycosylphosphatidylinositol (GPI) anchored proteins (GPI-APs), which are attached to the cell membrane via GPI anchor and play various important roles especially in neurological development. PGAP2 deficiency is a rare genetic disease with autosomal recessive inheritance characterized by intellectual disability, developmental delay, muscular hypotonia and epilepsy. It is caused by germline mutations in the PGAP2 gene which is important for maturation of GPI-APs. Mutations in PGAP2 lead to the decreased levels of GPI-APs. The prevalence of PGAP2 deficiency is unknown as it is recently recognized disease, but there have been over 20 patients reported.