PIGL

Parents

PIGL deficiency 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. It is caused by germline mutations in the PIGL gene which is important for glycosylphosphatidylinositol (GPI) anchor biosynthesis. Cell surface protein can be attached to the cell membrane via GPI anchor, and so mutations in PIGL leads to the decreased levels of GPI-anchored proteins. GPI-anchored proteins play vital roles in numerous biological processes, such as neuronal development. The prevalence of PIGL deficiency is unknown as it is recently recognized disease, but there have been over 17 patients reported.