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

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.

Conclu

SUBMITTER: Zhang D 

PROVIDER: S-EPMC7822995 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature