Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve.

ABSTRACT:

Background

Diminished ovarian reserve (DOR) is a common cause of female infertility, with genetic factors being a significant contributor. However, due to high genetic heterogeneity, the etiology of DOR in many cases remains unknown. In this study, we analyzed the phenotype of a young woman with primary infertility and performed molecular genetic analysis to identify the genetic cause of her condition, thus providing important insights for genetic counseling and reproductive guidance.

Methods

We collected the patient's basic information, clinical data, as well as diagnostic and therapeutic history and performed whole-exome sequencing on her peripheral blood. Candidate pathogenic variants were validated by Sanger sequencing in family members, and the pathogenicity of variants

SUBMITTER: Wan Y 

PROVIDER: S-EPMC10464148 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature