Among the candidate causative genes, TBX6, which locates in 16p11.2 and encodes a conserved transcription factor functioning in early embryogenesis, seems to be an important candidate gene reported to be associated with MRKH syndrome (Nik‐Zainal et al., 2011). The gene discussed is TBX6; the disease is Mayer-Rokitansky-Kuster-Hauser syndrome.