This website provides information on patients with mutations in the PGAP1 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 27 genes involved in biosynthesis and remodeling of GPI anchors. Hypomorphic coding mutations in twenty 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 autosomal-recessive forms of intellectual disability. They are called inherited GPI deficiencies (IGDs). The syndrome caused by mutations in the PGAP1 gene is a multisystem disorder characterized by Intellectual disability, epilepsy, severe encephalopathy, spasticity, facial dysmorphism and hypotonia.
Not all individuals with a mutation in the PGAP1 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 PGAP1 gene.
Yoshiko Murakami, MD, PhD, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan, firstname.lastname@example.org
Taroh Kinoshita, PhD, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan, email@example.com
Philippe Campeau, MD, PhD, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada, firstname.lastname@example.org
Peter Krawitz, MD, PhD, Institut für Genomische Statistik und Bioinformatik. Universitätsklinikum Bonn. Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany, email@example.com
Allan Bayat, MD, Department of Epilepsy Genetics and Personalized Medicin. Danish Epilepsy Centre/University of Southern Denmark, Dianalund, Denmark, firstname.lastname@example.org