This website provides information on patients with mutations in the PIGU gene, including clinical data, molecular data, management and research options.
Many eukaryotic cell-surface proteins are anchored to the membrane via glycosylphosphatidylinositol (GPI). There are at least 30 genes involved in biosynthesis and remodeling of GPI anchors. Hypomorphic coding mutations in 24 of these genes have been reported to cause decreased expression of GPI anchored proteins (GPI-APs) on the cell surface or expression with abnormal structures of GPI-anchor and to cause inherited GPI deficiencies (IGDs). PIGU is a component of GPI transamidase enzyme complex (GPIT) 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. The syndrome caused by mutations in the PIGU gene is a multisystem disorder characterized by autosomal-recessive forms of intellectual disability, developmental delay, epilepsy, muscular hypotonia, cerebellar hypoplasia, cerebral atrophy, and bone abnormalities such as osteopenia and scoliosis. Individuals with defect in GPIT genes commonly show bone abnormality sometimes with hypophosphatasia in severe cases.
Not all individuals with a mutation in the PIGU gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PIGU gene.
Yoshiko Murakami, MD, PhD, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan, yoshiko@biken.osaka-u.ac.jp
Taroh Kinoshita, PhD, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan, tkinoshi@biken.osaka-u.ac.jp