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. 2021 Nov 15;13(12):e14887. doi: 10.15252/emmm.202114887

Figure 1. Identification of MOS variants in female patients with early embryonic arrest and fragmentation.

Figure 1

  1. Three pedigrees and four MOS variants were identified, including homozygous missense variant Asn95Lys in patient 1 (family 1), compound heterozygous missense variants Met139Thr and Arg246His in patient 2 (family 2), and homozygous nonsense variant Cys320Ter in patient 3 (family 3). The four MOS variants were inherited and identified via Sanger sequencing. WT indicates wild‐type.
  2. Distribution of MOS variants in genome and the corresponding amino acid sequences. Multiple sequence alignment of four segments of MOS and the orthologs, with mutated residue marked in yellow.
  3. MOS variants encoding amino acid disrupted the ion pairs formed by wild‐type MOS protein.
  4. The morphology of oocytes and embryos from female patients with MOS variants. The day of oocyte retrieval was defined as day 0. Polar bodies were indicated by black arrows. Scale bar = 20 µm.

Source data are available online for this figure.