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
复制标题
ZP3 的新突变导致空卵泡综合征和透明带形成异常
DOI：
10.1007/s10815-020-01995-0
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发表时间：
2020-11-02
影响因子：
3.1
通讯作者：
Zhang, Xianqin
中科院分区：
文献类型：
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作者：
Zhang, Dazhi;Zhu, Lixia;Zhang, Xianqin
目的鉴定与女性不育相关的致病基因。方法采用全外显子组测序和Sanger DNA测序方法鉴定致病基因突变。我们进行了亚细胞蛋白定位、免疫印迹分析和共免疫沉淀分析来评估突变的影响。结果对17例女性不孕症家庭进行调查。全外显子组和Sanger DNA测序用于表征患者的疾病基因，我们在空卵泡综合征患者的ZP3基因中发现了一个新的杂合突变（p.Ser173Cys, c.518C >； G）。当我们进行共免疫沉淀分析时，我们发现S173C突变影响了ZP3和ZP2之间的相互作用。结论：我们在一个中国女性不孕症家庭中发现了一个新的ZP3基因突变。因此，我们的发现扩大了ZP3基因的突变和表型谱，并将有助于准确诊断这方面的女性不孕症。
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.