We developed a diagnostic gene panel for targeting all known genes encoding proteins in the GPI-anchor-synthesis pathway to screen individuals matching these features, and we detected three missense mutations in PGAP2, c.46C&gt;T, c.380T&gt;C, and c.479C&gt;T, in two unrelated individuals with hyperphosphatasia with mental retardation syndrome (HPMRS).
C1855923
Hyperphosphatasia with Mental Retardation