In our study, although with the same c.672_701dup mutation, patient #12 was fertile with normal ovarian reserve, while patients #10 and #11 exhibited infertility (>5 yrs duration) and a DOR phenotype, both of whom had FSH >15 IU/L, AMH <1.2 ng/ml and AFC ≤5 simultaneously. The gene discussed is BRD2; the disease is Infertility.