In particular, the characterization of mutations in MED12, a key subunit of the mediator of RNA polymerase II transcription (Mediator) complex that globally regulates RNA polymerase II-dependent transcription, is of considerable interest as they have been found in ~70% of patients diagnosed with uterine leiomyomas, with mutations occurring predominantly in exon 2 of MED128. The gene discussed is MED12; the disease is Uterine leiomyoma.