This website provides information on patients with mutations in the PIGOgene, 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). PIGO is the enzyme which attaches ethanolamine phosphate to the third mannose of GPI. The syndrome caused by mutations in the PIGO gene is a multisystem disorder characterized by autosomal-recessive forms of intellectual disability, developmental delay, epilepsy, facial dysmorphisms, muscular hypotonia, hyperphosphatasia and in severe cases, with ichthyosis, hearing loss and multiorgan anomalies such as Hirschsprung disease, diaphragmatic hernia, gastrointestinal atresia, cardiac and renal involvement.
Not all individuals with a mutation in the PIGO 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 PIGO 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