Journal
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
Volume 9, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fcell.2021.647130
Keywords
female infertility; CDC20; novel mutation; oocyte maturation arrest; fertilization failure
Categories
Funding
- National Key Research and Development Program of China [2018YFC1003800, 2017YFC1001500, 2016YFC1000600]
- National Natural Science Foundation of China [81725006, 81822019, 81771581, 81971450, 81971382]
- Shanghai Municipal Science and Technology Major Project [2017SHZDZX01]
- Project of Shanghai Municipal Science and Technology Commission [19JC1411001]
- Natural Science Foundation of Shanghai [19ZR1444500]
- Shuguang Program of Shanghai Education Development Foundation
- Shanghai Municipal Education Commission [18SG03]
- Foundation of Shanghai Health and Family Planning Commission [20154Y0162]
- Chinese Academy of Sciences [FIRMC200507]
- Capacity Building Planning Program for Shanghai Women and Children's Health Service
- China Postdoctoral Science Foundation [2020M681356]
- collaborative innovation center project construction for Shanghai Women and Children's Health
- Strategic Collaborative Research Program of the Ferring Institute of Reproductive Medicine
- Ferring Pharmaceuticals
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Mutations in the CDC20 gene play a crucial role in oocyte maturation and fertilization, leading to various infertility phenotypes. This study expands the spectrum of known mutations in CDC20 and provides new evidence for its involvement in female infertility characterized by oocyte maturation arrest and fertilization failure.
Oocyte maturation and fertilization are fundamental processes for successful human reproduction, and abnormalities in these processes will cause infertility. Recently, we identified biallelic mutations in CDC20 that are responsible for human oocyte maturation arrest, fertilization failure, and early embryonic development arrest. In this study, we screened for further CDC20 mutations in a new cohort of patients with abnormalities in oocyte maturation, fertilization, and early embryonic development. Through whole-exome sequencing, we identified the four novel mutations c.887G > A (p. Arg296Gln), c.964C > T (p.Arg322*), c.1155G > C (p.Trp385Cys), and c.330 + 1G > A (p. Glu111Ilefs*36) and one previously reported mutation c.965G > A (p.Arg322Gln) in CDC20 in four infertile individuals from three independent families. The patients had different phenotypes of oocyte maturation arrest and fertilization failure resulting from the different mutations. This study confirms our previous research and expands the spectrum of known mutations in CDC20, providing new evidence supporting the function of CDC20 in the genetic etiology of female infertility characterized by oocyte maturation arrest and fertilization failure.
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