Identification of Novel Mutations in CDC20: Expanding the Mutational Spectrum for Female Infertility.

ABSTRACT: 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

SUBMITTER: Zhao L 

PROVIDER: S-EPMC8063106 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature