Compound heterozygous mutations in TBPL2 were identified in an infertile woman with impaired ovarian folliculogenesis.

ABSTRACT:

Objective

A 32-year-old female was diagnosed with unexplained primary infertility for 10 years. She had roughly normal basal hormone levels, but her basal follicle-stimulating hormone (FSH) levels were elevated. In addition, the level of anti-Mullerian hormone was within the normal range, and she had undergone two failed oocyte collection attempts. We aimed to investigate the genetic cause of female infertility in patients with impaired ovarian folliculogenesis.

Methods

Genomic DNA was extracted from the peripheral blood of the patient and her family members. Whole-exome sequencing was performed on the patient, and TBPL2 mutations were identified and confirmed by Sanger sequencing. The Exome Aggregation Consortium (ExAC) Browser and Genome Aggregation Database (gnomAD) Brows

SUBMITTER: Du T 

PROVIDER: S-EPMC10656374 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature