PIGQ deficiency is caused by germline mutation in PIGQ. PIGQ is the component of the enzyme complex for the first step in GPI anchor biosynthesis. GPI-anchored proteins serve critical functions as adhesion molecules, receptors, complement regulators, enzymes and co-receptors in signal transduction pathways. The main clinical features are intellectual disability, developmental delay, epilepsy (including early-onset epileptic encephalopathy, such as Ohtahara Syndrome), facial dysmorphisms, joint contractures, organ anomalies and teeth abnormality. The prevalence of PIGQ deficiency is unknown as it is recently recognized disease. There have been 11 patients reported. The PIGQ gene is located on chromosome 16p13.3, and PIGQ deficiency is a autosomal recessive disorder.
PIGQ