This website provides information on patients with mutations in the PIGA 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 23 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 PIGA gene is a multisystem disorder characterized by intellectual disability, developmental delay, epilepsy (including early-onset epileptic encephalopathy, such as Ohtahara syndrome), facial dysmorphisms, joint contractures, cardiac, liver, renal involvement, hearing loss, teeth abnormalities, hyperphosphatasia and sometimes with iron overload, similar to hemochromatosis.
Not all individuals with a mutation in the PIGA 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 PIGA 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