A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies
Introduction: Premature ovarian insufficiency (POI) is characterized by an unusually early depletion of the ovarian follicular pool in women. Genetic progress in recent years has allowed the identification of different genes that can predispose to the development of POI. Bone morphogenetic protein 1...
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| Format: | Article |
| Language: | English |
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IMR Press
2020-06-01
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| Series: | Clinical and Experimental Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | https://www.imrpress.com/journal/CEOG/47/3/10.31083/j.ceog.2020.03.5068 |
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| author | R. Robeva S. Andonova M. Glushkova T. Todorov A. Elenkova A. Savov S. Zacharieva A. Todorova |
| author_facet | R. Robeva S. Andonova M. Glushkova T. Todorov A. Elenkova A. Savov S. Zacharieva A. Todorova |
| author_sort | R. Robeva |
| collection | DOAJ |
| description | Introduction: Premature ovarian insufficiency (POI) is characterized by an unusually early depletion of the ovarian follicular pool in women. Genetic progress in recent years has allowed the identification of different genes that can predispose to the development of POI. Bone morphogenetic protein 15 (BMP15) genetic variants have been associated with diminished ovarian reserve and subfertility in animals and humans. Materials and Methods: Herein, the authors present a 34-year-old Caucasian woman with normal pubertal development, one uncomplicated pregnancy and two spontaneous pregnancies after POI diagnosis. Results: A very rare variant c.269T>C (p.Ile90Thr) in exon 1 of the BMP15 gene was detected. Conclusions: The proper differentiation between genetic variants associated with premature ovarian ageing and mutations that can attribute to irreversible early gonadal impairments is an important task of future studies. |
| first_indexed | 2024-04-12T17:19:53Z |
| format | Article |
| id | doaj.art-879d462bcf924802af6ea1862b574ff3 |
| institution | Directory Open Access Journal |
| issn | 0390-6663 |
| language | English |
| last_indexed | 2024-04-12T17:19:53Z |
| publishDate | 2020-06-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj.art-879d462bcf924802af6ea1862b574ff32022-12-22T03:23:31ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632020-06-0147340941110.31083/j.ceog.2020.03.5068S0390-6663(20)00275-4A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnanciesR. Robeva0S. Andonova1M. Glushkova2T. Todorov3A. Elenkova4A. Savov5S. Zacharieva6A. Todorova7Department of Endocrinology, Medical Faculty, Medical University-Sofia, Sofia, BulgariaNational Genetic Laboratory, University Hospital of Obstetrics and Gynecology “Maichin dom”, Medical Faculty, Medical University-Sofia, Sofia, BulgariaDepartment of Medical Chemistry and Biochemistry, Medical Faculty, Medical University-Sofia, Sofia, BulgariaGenetic Medico-Diagnostic Laboratory “Genica”, Sofia, BulgariaDepartment of Endocrinology, Medical Faculty, Medical University-Sofia, Sofia, BulgariaNational Genetic Laboratory, University Hospital of Obstetrics and Gynecology “Maichin dom”, Medical Faculty, Medical University-Sofia, Sofia, BulgariaDepartment of Endocrinology, Medical Faculty, Medical University-Sofia, Sofia, BulgariaDepartment of Medical Chemistry and Biochemistry, Medical Faculty, Medical University-Sofia, Sofia, BulgariaIntroduction: Premature ovarian insufficiency (POI) is characterized by an unusually early depletion of the ovarian follicular pool in women. Genetic progress in recent years has allowed the identification of different genes that can predispose to the development of POI. Bone morphogenetic protein 15 (BMP15) genetic variants have been associated with diminished ovarian reserve and subfertility in animals and humans. Materials and Methods: Herein, the authors present a 34-year-old Caucasian woman with normal pubertal development, one uncomplicated pregnancy and two spontaneous pregnancies after POI diagnosis. Results: A very rare variant c.269T>C (p.Ile90Thr) in exon 1 of the BMP15 gene was detected. Conclusions: The proper differentiation between genetic variants associated with premature ovarian ageing and mutations that can attribute to irreversible early gonadal impairments is an important task of future studies.https://www.imrpress.com/journal/CEOG/47/3/10.31083/j.ceog.2020.03.5068premature ovarian insufficiencyfertilitybmp15 genetic variants |
| spellingShingle | R. Robeva S. Andonova M. Glushkova T. Todorov A. Elenkova A. Savov S. Zacharieva A. Todorova A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies Clinical and Experimental Obstetrics & Gynecology premature ovarian insufficiency fertility bmp15 genetic variants |
| title | A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies |
| title_full | A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies |
| title_fullStr | A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies |
| title_full_unstemmed | A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies |
| title_short | A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies |
| title_sort | rare bmp15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies |
| topic | premature ovarian insufficiency fertility bmp15 genetic variants |
| url | https://www.imrpress.com/journal/CEOG/47/3/10.31083/j.ceog.2020.03.5068 |
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