Fig. 1

Pedigree chart of EFS patients and genetic analysis of ZP gene mutations. (A) Pedigrees of the two EFS patients and Sanger sequencing validation plots. Squares represent male family members, circles represent female family members, solids indicate affected members, and equal signs indicate infertility. The black arrows point to the probands in the families. Genotypes are shown below the family members. (B) The locations of mutations in ZP1 and ZP3 are indicated in the genomic structure (top) and functional domains (bottom). SP (gray): signal peptide; ZP-N1 (azure blue): N-terminal isolated ZP-N; TD (green): trefoil domain; ZP-N (light blue): ZP-N domain; ZP-C (navy blue): ZP-C domain; CFCS (orange): consensus furin cleavage site; TMD (brown): transmembrane-like domain; IHP (magenta): internal hydrophobic patches; EHP (red): external hydrophobic patches. (C) The ZP1 and ZP3 mutation sites are highly conserved across different species. The red color indicates mutated amino acids. * indicates the stop codon