Fig. 1. Identification of pathogenic variants in PANX1.

A Two pedigrees carrying PANX1 variants that lead to infertility with the oocyte death phenotype. Sanger sequencing confirmation is shown below the pedigrees. Squares denote male family members, circles denote female members, the diamond denotes unknown gender, black solid circles denote the probands, and the equal sign denotes infertility. B Locations of the newly identified homozygous variants in PANX1 exons and the protein structure of PANX1. Red arrows indicate the newly identified variants and the blue arrow indicates the variants reported previously. TM transmembrane region, EC extracellular region, IC intracellular region. C The affected amino acids were compared among seven mammalian species in a conservation analysis.