2. Academic Validation
  3. A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation

A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation

  • J Assist Reprod Genet. 2021 Jan;38(1):251-259. doi: 10.1007/s10815-020-01995-0.
Dazhi Zhang  # 1,  Lixia Zhu  # 2,  Zhenxing Liu 1,  Xinling Ren 2,  Xue Yang 1,  Dan Li 2,  Yalin Luo 1,  Xuejie Peng 1,  Xiaopei Zhou 1,  Weimin Jia 1,  Meiqi Hou 1,  Zhou Li 3,  Lei Jin 2,  Xianqin Zhang 4
Affiliations

Affiliations

  • 1 Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, 430074, China.
  • 2 Reproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
  • 3 Reproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China. Lizhou618@hotmail.com.
  • 4 Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, 430074, China. xqzhang04@hust.edu.cn.
  • # Contributed equally.
PMID: 33140178 DOI: 10.1007/s10815-020-01995-0
Abstract

Purpose: To identify disease-causing genes involved in female infertility.

Methods: Whole-exome Sequencing and Sanger DNA Sequencing were used to identify the mutations in disease-causing genes. We performed subcellular protein localization, western immunoblotting analysis, and co-immunoprecipitation analysis to evaluate the effects of the mutation.

Results: We investigated 17 families with female infertility. Whole-exome and Sanger DNA Sequencing were used to characterize the disease gene in the patients, and we identified a novel heterozygous mutation (p.Ser173Cys, c.518C > G) in the ZP3 gene in a patient with empty follicle syndrome. When we performed co-immunoprecipitation analysis, we found that the S173C mutation affected interactions between ZP3 and ZP2.

Conclusions: We identified a novel mutation in the ZP3 gene in a Chinese family with female infertility. Our findings thus expand the mutational and phenotypical spectrum of the ZP3 gene, and they will be helpful in precisely diagnosing this aspect of female infertility.

Keywords

Empty follicle syndrome (EFS); Female infertility; Mutation; Zona pellucida (ZP).

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