A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism
ATP6AP2 encodes an accessory unit of vacuolar ATPase (V-ATPase), an essential
lysosomal enzyme expressed in different organs such as brain, heart, placenta, liver,
pancreas, kidney, lungs, and skeletal muscle [2, 3]. V-ATPase is in high demand by neural
cells which is a possible reason that ATP6AP2 mutations leads to CNS-confined
manifestations. Poorkaj et al. described a unique X-linked parkinsonian syndrome in five
men across several generations of the same family which was mapped to Xp11. 2-Xq13. 3 …
lysosomal enzyme expressed in different organs such as brain, heart, placenta, liver,
pancreas, kidney, lungs, and skeletal muscle [2, 3]. V-ATPase is in high demand by neural
cells which is a possible reason that ATP6AP2 mutations leads to CNS-confined
manifestations. Poorkaj et al. described a unique X-linked parkinsonian syndrome in five
men across several generations of the same family which was mapped to Xp11. 2-Xq13. 3 …