Gene expression profiling in patients harboring MLL2 mutations has shown that certain proteins associated with dystonia, such as torsin family 1 member A (TOR1A), THAP domain-containing, apoptosis-associated protein 1 (THAP1) and dopamine receptor D2 (D2R) are decreased in cerebrospinal fluid and fibroblasts, indicating MLL2 implication in disease pathogenesis that needs further investigation [5]. This evidence concerns the gene TOR1A and Dystonia.