Professionals

PIGU deficiency is caused by germline mutation in PIGU. PIGU is a component of GPIT complex consist of PIGS, PIGT, GAA1, PIGU and PIGK, which recognizes the GPI attachment signal of the C-terminal of the precursor protein and processes and attaches GPI anchor. GPI-APs serve critical functions as adhesion molecules, receptors, complement regulators, enzymes and co-receptors in signal transduction pathways. The main clinical features of PIGU deficiency are intellectual disability, developmental delay, epilepsy, muscular hypotonia, cerebellar hypoplasia, cerebral atrophy, and bone abnormalities such as osteopenia and scoliosis. The prevalence of PIGU deficiency is unknown as it is recently recognized disease. The PIGU gene is located on chromosome 20q11.22, and PIGU deficiency is autosomal recessive disorder.