Molecular characteristics

Eight individuals from six families with bi-allelic variants are reported in literature. Missense variants have been identified. Functional studies on individuals with PIGH mutations show a decrease in GPI-anchored proteins (GPI-Aps) at the cell surface demonstrating a defect in the biosynthesis of GPI-Aps. Approximately one in every 200 mammalian proteins is a GPI-Aps. These proteins are important for neurological development and function, embryogenesis, immune response, and signal transduction.