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. 2021 Feb 4;9:628649. doi: 10.3389/fcell.2021.628649

Figure 1.

Figure 1

Clinical characterization and identification of PATL2 mutations in the infertile patients. (A) The morphology of oocytes [germinal vesicle (GV), metaphase I (MI), and first polar body (Pb1) oocytes] from normal and affected individuals with PATL2 mutations. Individuals from family 3 and 4 had Pb1 oocytes with abnormal polar body, as indicated by the arrows. The scale bar represents 50 μm. (B) Pedigrees of five affected families. Sanger sequencing confirmation is shown below the pedigrees. Solid indicates affected members, and equal signs denote infertility. Sanger sequencing result is shown beside the pedigrees. The mutations in the affected individuals from families 3, 4, and 5 were inherited from their parents. The patients in families 1 and 2 had unknown inheritance patterns. The patients in families 1 carried mutation c.C898T p.Q300* and family 2 carried mutation c.A1345G p.T449A. The patients in families 3 had the compound heterozygous mutations c.C1376A p.S459Y and c.A931G p.M311V. Compound heterozygous mutations c.G920A p.R307Q and c.T649A p.Y217N were identified in family 4. Heterozygous mutation c.C1336T p.R446W was identified in two sisters in family 5.