Novel mutations in lead to female infertility with oocyte maturation arrest.

Oocyte maturation arrest (OMA) refers to a rare clinical phenomenon of oocyte maturation disorder caused by abnormal meiosis, which is also one of the primary causes of female infertility. The clinical manifestations of these patients are often characterized with failure to obtain mature oocytes after repeated ovulation stimulation and/or induced maturation. To date, mutations in , and have been demonstrated to be associated with OMA, but studies on the genetic-based factors and mechanisms of OMA are still incomplete.