This website provides information on patients with mutations in the PIGL gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PIGL gene is a rare multisystem disorder, characterized by intellectual disability, developmental delay, epilepsy, hypotonia, and ichthyosiform dermatosis sometimes with facial dysmorphisms, cardiac and eye involvement, and hearing loss. Symptoms of some patients with PIGL deficiency match with CHIME (colobomas, congenital heart defect, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies) syndrome.
Not all individuals with a mutation in the PIGL 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 PIGL 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