Back to Search Start Over

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

Authors :
Lin Zhao
Yichun Guan
Qingxia Meng
Weijie Wang
Ling Wu
Biaobang Chen
Jijun Hu
Jiawei Zhu
Zhihua Zhang
Jian Mu
Yao Chen
Yiming Sun
Tianyu Wu
Wenjing Wang
Zhou Zhou
Jie Dong
Yang Zeng
Ruyi Liu
Qiaoli Li
Jing Du
Yanping Kuang
Qing Sang
Lei Wang
Source :
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Publication Year :
2021
Publisher :
Frontiers Media S.A., 2021.

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 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.

Details

Language :
English
ISSN :
2296634X
Volume :
9
Database :
Directory of Open Access Journals
Journal :
Frontiers in Cell and Developmental Biology
Publication Type :
Academic Journal
Accession number :
edsdoj.51f6210c6c7e470e8d2dca97e50e02b0
Document Type :
article
Full Text :
https://doi.org/10.3389/fcell.2021.647130