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Journal of Assisted Reproduction and Genetics

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01-09-2019 | Infertility | Genetics

Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure

Authors: Xiaopei Zhou, Lixia Zhu, Meiqi Hou, Yanling Wu, Zhou Li, Jiarui Wang, Zhenxing Liu, Dazhi Zhang, Lei Jin, Xianqin Zhang

Published in: Journal of Assisted Reproduction and Genetics | Issue 9/2019

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.

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Title: Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure
Authors: Xiaopei Zhou
Lixia Zhu
Meiqi Hou
Yanling Wu
Zhou Li
Jiarui Wang
Zhenxing Liu
Dazhi Zhang
Lei Jin
Xianqin Zhang
Publication date: 01-09-2019
Publisher: Springer US
Keywords: Infertility
ICSI
Infertility
Published in: Journal of Assisted Reproduction and Genetics / Issue 9/2019
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-019-01553-3

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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