Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in <i>PIGW</i> is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

Abstract excerpt

BACKGROUND: Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors 150 or more kinds of proteins to the human cell surface. There are at least 26 genes involved in the biosynthesis and remodelling of GPI anchored proteins (GPI-APs). Recently, inherited GPI deficiencies (IGDs) were reported which cause intellectual disability often accompanied by epilepsy, coarse facial features and multiple anomalies...

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