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- Title
Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure.
- Authors
Zhou, Xiaopei; Zhu, Lixia; Hou, Meiqi; Wu, Yanling; Li, Zhou; Wang, Jiarui; Liu, Zhenxing; Zhang, Dazhi; Jin, Lei; Zhang, Xianqin
- Abstract
Purpose: To identify the disease-causing gene in a family with female infertility and fertilization failure. Methods: Whole-exome sequencing and Sanger sequencing were used to identify the disease-causing gene in a female with infertility and fertilization failure. Subcellular localization and western blot analysis were used to check the effect of mutations. Results: We identified novel compound heterozygous mutations c.598C>T (p.Arg200Ter) and c.1319G>C (p.Trp440Ser) in WEE2 gene in a female with infertility and fertilization failure. The p.Arg200Ter mutant WEE2 gene produce truncated protein and mainly located in the nucleus, the same as the wild protein, while the p.Trp440Ser mutant WEE2 proteins are located in the nucleus and cytoplasm and the expression level of p.Trp440Ser mutant WEE2 protein is reduced significantly compared with that of wild-type WEE2. Conclusions: We discovered novel compound heterozygous mutations c.598C>T (p.Arg200Ter) and c.1319G>C (p.Trp440Ser) in WEE2 gene in a female whose oocytes could not form pronucleus after intracytoplasmic sperm injection (ICSI). Moreover, mutations in WEE2 gene affect the normal function of WEE2 proteins and cause fertilization failure.
- Subjects
FEMALE infertility; INTRACYTOPLASMIC sperm injection; MUTANT proteins; WESTERN immunoblotting; CYTOPLASM; GENE families; MALE infertility
- Publication
Journal of Assisted Reproduction & Genetics, 2019, Vol 36, Issue 9, p1957
- ISSN
1058-0468
- Publication type
Article
- DOI
10.1007/s10815-019-01553-3