期刊
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
卷 38, 期 1, 页码 251-259出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10815-020-01995-0
关键词
Female infertility; Empty follicle syndrome (EFS); Zona pellucida (ZP); Mutation
资金
- National Natural Science Foundation of China [81000079, 81170165, 81870959]
- Program for HUST Academic Frontier Youth Team [2016QYTD02]
- Fundamental Research Funds for the Central Universities [HUST: 2019JYCXJJ035]
The study aimed to identify disease-causing genes related to female infertility, and a novel mutation in the ZP3 gene was identified in a Chinese family. This mutation was found to affect the interactions between ZP3 and ZP2, expanding the mutational and phenotypical spectrum of the ZP3 gene.
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.
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