TOE1 and pontocerebellar hypoplasia type 7: There was an increase in the fraction of U1 and U2 snRNAs, and to a less extent, U5 snRNAs containing tails in patient-derived TOE1 defective fibroblast and NPC lines compared to unaffected relatives, suggesting that there might be a link between the cause of PCH7 and a key factor involved in incompletely processed snRNAs which are likely caused by loss-of-function TOE1 mutations (32).