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

Autor: Du T; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Southeast University, Nanjing, 210002, Jiangsu, China., Li M; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Southeast University, Nanjing, 210002, Jiangsu, China.; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Nanjing University, Nanjing, 21002, Jiangsu, China., Chen L; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Southeast University, Nanjing, 210002, Jiangsu, China.; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Nanjing University, Nanjing, 21002, Jiangsu, China., Shao Y; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Southeast University, Nanjing, 210002, Jiangsu, China.; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Nanjing University, Nanjing, 21002, Jiangsu, China., Wang Y; Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, China., Wang H; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Southeast University, Nanjing, 210002, Jiangsu, China.; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Nanjing University, Nanjing, 21002, Jiangsu, China., Ma J; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Southeast University, Nanjing, 210002, Jiangsu, China. majinzhao07@163.com.; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Nanjing University, Nanjing, 21002, Jiangsu, China. majinzhao07@163.com., Yao B; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Southeast University, Nanjing, 210002, Jiangsu, China. yaobing@nju.edu.cn.; Center of Reproductive Medicine, Affiliated Hospital of Medical School, Jinling Hospital, Nanjing University, Nanjing, 21002, Jiangsu, China. yaobing@nju.edu.cn.
Jazyk: angličtina
Zdroj: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2023 Dec; Vol. 40 (12), pp. 2945-2950. Date of Electronic Publication: 2023 Oct 07.
DOI: 10.1007/s10815-023-02961-2
Abstrakt: 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) Browser Beta were used to search the allele frequencies of the variants in the general population. The harmfulness of the mutations was analyzed by SIFT, Mutation Taster, and CADD software.
Result: One novel mutation, c.802C > T (p. Arg268Ter), and one known variant, c.788 + 3A > G (p. Arg233Ter), in TBPL2 were identified in the infertile family. Compound heterozygous mutations in TBPL2 may be the cause of impaired ovarian folliculogenesis, failure of superovulation, and infertility.
Conclusions: We identified compound heterozygous mutations in TBPL2 that caused impaired ovarian folliculogenesis, failure of superovulation, and infertility in patients. These findings suggest an important role for compound heterozygous mutations in TBPL2 and expand the mutational spectrum of TBPL2, which might provide a new precise diagnostic marker for female infertility.
(© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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