In conclusion, we report three dystonia patients with novel variants in KMT2B and broaden the spectrums of genotype and phenotype of KMT2B. Among these variants, the novel nonsense variant c.4075C>T (p.Q1359*) and the frameshift variant c.4458delC (p.R1487AfsTer7) show high pathogenicity whereas the missense variant need to further verify. This evidence concerns the gene KMT2B and Dystonia.