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PiGVPlodia Interpunctella Granulosis Virus
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Mutations in six different genes (PIGV, PIGY, PIGO, PGAP2, PIGW, and PGAP3) involved in GPI-anchor biosynthesis have been shown to cause hyperphosphatasia with mental retardation syndrome (HPMRS).
CD16 and several other GPI-APs were significantly decreased on granulocytes as determined by flow cytometry, showing the usefulness of flow-cytometric determination of CD16 levels on blood granulocytes in the diagnosis of IGDs.70) HPMRS caused by PIGV and PIGO mutations are termed HPMRS type 1 and HPMRS type 2 (HPMRS1 and HPMRS2), respectively.
The researchers succeeded in showing that in the case of Mabry Syndrome the PIGV gene is mutated, in such a way that the alkaline phosphatase is not adequately connected to the cell membrane.