A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death.

ABSTRACT:

Purpose

Variants in the pannexin1 (PANX1) gene have been reported to be associated with oocyte death and recurrent in vitro fertilization failure. In this study, we performed genetic analysis in the patient with female infertility due to oocyte death to identify the disease-causing gene variant in the patient.

Methods

We characterized one patient from a non-consanguineous family who had suffered from oocyte death and female infertility. Whole-exome sequencing and Sanger sequencing were used to identify the variant in the family. Western blot analysis was used to check the effect of the variant on PANX1 glycosylation pattern in vitro.

Results

We identified a novel heterozygous PANX1 variant (NM_015368.4 c.976_978del, (p.Asn326del)) associated with the phenotype of oocy

SUBMITTER: Zhou J 

PROVIDER: S-EPMC9840723 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature