biostudies-literatureDu TJiangsu Funding Program for Excellent Postdoctoral TalentNational Natural Science Foundation of ChinaChina Postdoctoral Science Foundation2945-2950https://www.ebi.ac.uk/biostudies/studies/S-EPMC10656374biostudies-literatureUnknown40(12)<h4>Objective</h4>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.<h4>Methods</h4>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) BrowsJournal of assisted reproduction and geneticsCompound heterozygous mutations in TBPL2 were identified in an infertile woman with impaired ovarian folliculogenesis.PMC10656374Certificate Number: 2023M731413NO:2022ZB727grant no. 82274651grant no. 81971373grant no. 82001618Du TShao YChen LMa JYao BWang HWang YLi MfalseCompound heterozygous mutations in TBPL2 were identified in an infertile woman with impaired ovarian folliculogenesis.<h4>Objective</h4>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.<h4>Methods</h4>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) Brows2023-01-01T00:00:00Z2023 Dec2026-06-02T03:48:04.645Z2026-04-14T03:12:16.019ZS-EPMC106563743780437810.1007/s10815-023-02961-2