Novel variants associated with premature ovarian insufficiency in Russian adolescents
Our findings demonstrate that WES is an effective diagnostic tool for adolescents with POI and should supplement standard karyotyping and <i>FMR1</i> testing in routine clinical practice. We report several novel variants in POI-associated genes and propose new gene-disease association.
Authors
- Andrey A. Bystritskiy (ORCID: https://orcid.org/0000-0002-0436-9951)
- E.V. Uvarovа (ORCID: https://orcid.org/0000-0002-3105-5640)
- D. Yu. Trofimov (ORCID: https://orcid.org/0000-0002-1569-8486)
- Г. Т. Сухих (ORCID: https://orcid.org/0000-0002-7712-1260)
- Igor Sadelov (ORCID: https://orcid.org/0000-0002-5144-6307)
- N A Karetnikova
- Т. А. Колпакова (ORCID: https://orcid.org/0000-0001-9718-2020)
- Н.И. Павлова (ORCID: https://orcid.org/0000-0001-7862-1876)
- Taisiya Kochetkova
- Jekaterina Shubina (ORCID: https://orcid.org/0000-0003-4383-7428)
- A.I. Turchinets (ORCID: https://orcid.org/0000-0002-4478-9133)
- S. V. Yureneva (ORCID: https://orcid.org/0000-0003-2864-066X)
- I. S. Mukosey (ORCID: https://orcid.org/0000-0002-2225-8366)
- Z.K. Batyrova (ORCID: https://orcid.org/0000-0003-4997-6090)
- Andrey Goltsov (ORCID: https://orcid.org/0000-0002-4004-4214)
- Maria Kuznetsova (ORCID: https://orcid.org/0000-0003-3790-0427)
- Polina Tsabai
- Z.Kh. Kumykova
- Anna Bolshakova
- Dmitry Maslennikov
- Alexey Ekimov
- Victoria Averkova
Institutions
- National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation (RU)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-11-27
- DOI
- https://doi.org/10.3389/fendo.2025.1687148
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Russian Science Foundation