Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure

• Published in: Clinical genetics Vol. 95; no. 4; pp. 520 - 524
• Main Authors: Zhang, Zhihua, Mu, Jian, Zhao, Junli, Zhou, Zhou, Chen, Biaobang, Wu, Ling, Yan, Zheng, Wang, Wenjing, Zhao, Lin, Dong, Jie, Sun, Xiaoxi, Kuang, Yanping, Li, Bin, Wang, Lei, Sang, Qing
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2019
• Subjects: Adolescent; Adult; Base Sequence; Cell Cycle Proteins - genetics; Child; Child, Preschool; DNA Mutational Analysis; Exons; Female; Fertilization; human fertilization failure; Humans; Infant; Infertility, Female - genetics; Mutation; Oocytes; Oocytes - metabolism; Pedigree; Protein-Tyrosine Kinases - genetics; Sexual reproduction; WEE2; Young Adult; human fertilization failure; mutation; WEE2
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/cge.13505

Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. We have previously found homozygous mutations in WEE2 that are responsible for human fertilization failure, but the genetic basis of human fertilization failure requires further investigation. In the present study, we screened for WEE2 mutations in a new cohort of patients with fertilization failure. Through Sanger sequencing of WEE2 exons, we identified seven novel mutations and two reported mutations in WEE2 from six affected individuals. Morphologically normal PB1 oocytes can be retrieved from all patients. However, most of the oocytes cannot be fertilized successfully. These findings confirmed our previous research and expanded the mutational spectrum of WEE2, making it a potential genetic diagnostic marker for those suffering from human fertilization failure.