This website provides information on patients with mutations in the PGAP2 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). PGAP2 (Post-GPI Attachment To Proteins 2) is involved in lipid remodeling of GPI-APs. In PGAP2 defective cells, GPI-APs are expressed in lyso form, which are released from the cell surface, leading to decreased expression of GPI-APs.
The syndrome caused by mutations in the PGAP2 gene is a multisystem disorder characterized by autosomal-recessive forms of intellectual disability, developmental delay, epilepsy, facial dysmorphisms, muscular hypotonia and hyperphosphatasia. The severe cases show multiorgan anomalies and hearing loss.
Not all individuals with a mutation in the PGAP2gene 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 PGAP2 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