Even though gain of function MIS or MISR2 mutations have not been reported in women with Mullerian anomalies, the uterine hypoplasia observed in the present study is suggestive of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), also known as Mullerian aplasia which affects 1 in 4500 women (Nik-Zainal et al., 2011). The gene discussed is AMHR2; the disease is Müllerian aplasia.