Fig. 1.

Pedigree and characterization of HFM1 gene variants in a Chinese family. A Two family members in the pedigree were diagnosed with DOR and RPL. The solid circle with an arrow indicates the proband. Solid circles indicate the affected family members. Squares and circles indicate males and females, respectively. B The two affected sisters were confirmed to be the compound heterozygosity, c.1978-2A > C and c.2680 + 3_2680 + 4delAT, on the HFM1 gene. Their parents (I1 and I2) were carriers, while both variants were not detected in fertile siblings (II1 and II4). C Localization of the two HFM1 variants identified in this study. HM, hydatidiform mole