Whole-exome sequencing revealed a frameshift mutation in one MS patient, confirmed as a novel 2–base pair deletion mutation in exon 3 of the THAP1 gene (heterozygous exon 3 c.377_378delCT, p.Pro126Args*2) via full sequencing analysis of DYT6 (65). Here, THAP1 is linked to myeloid sarcoma.