GPI biosynthesis disorders
GPI biosynthesis defects affect the anchoring of proteins to the cytoplasmic membrane. Glycosylphosphatidylinositol is a glycolipid anchor added to more than one hundred human proteins, several being critical for embryogenesis and neurological functions. This website reviews mutations in GPI biosynthesis genes, and provides links to clinicians and families. If you are a clinician involved in the care of a patient with a GPI-biosynthesis defect or a family wishing to be included in one of our studies, please contact us.
Genes known to be involved in GPI biosynthesis include the following: PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGX, PIGY, PIGZ, PGAP1, PGAP2, PGAP3, GPAA1 and MPPE1. Mutations in some, but not all of them have been identified in patients with features of GPI-biosynthesis disorders, usually causing epilepsy, developmental delay and various malformations. One of the goals of our studies is to delineate the phenotypic spectrum (clinical manifestations) of affected patients to allow clinicians to better counsel families and manage patients.