TOE1 and pontocerebellar hypoplasia: Significantly, mutations in TOE1 have been shown to cause pontocerebellar hypoplasia (PCH7; 44) which, together with the EOCA mutation in this study, suggests that specific cell type(s) in cerebellum may have increased demand for TOE1 and other snRNA 3′ end processing activities that could make U1284C>U more vulnerable for degradation.