We also found that the abnormality of the Müllerian duct caused by missense mutation of WNT4 differed from that caused by CNVs of WNT4. All of the women carrying the missense mutation showed Müllerian duct abnormalities (two patients showed absent vagina and uterus, while one 15-year-old patient showed uterine agenesis), hyperandrogenemia, and primary amenorrhea [15–18]. The gene discussed is WNT4; the disease is polycystic ovary syndrome.