Novel mutations in the PLCZ1 gene associated with human low or failed fertilization.

ABSTRACT:

Background

Fertilization failure (FF) is a complex reproductive disorder characterized by the failure of pronuclei formation during fertilization. In addition to some cases caused by iatrogenic problems and known genetic factors, there are still many unexplained aspects of FF. Here, we aimed to assess the clinical and genetic characteristics of two families experiencing primary infertility with FF.

Methods

We have characterized two families from China. All of the infertile couples presented with similar clinical phenotypes, that is, partial or total fertilization failure in repeated cycles. We performed Sanger sequencing of their WEE2, TLE6, and PLCZ1 genes, and further bioinformatics and functional analyses were performed to identify the pathogenic elements of the variants.

SUBMITTER: Yuan P 

PROVIDER: S-EPMC7549595 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature