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Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (3): 409-411    DOI: 10.31083/j.ceog.2020.03.5068
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A rare BMP15 genetic variant in a patient with premature ovarian insufficiency and two spontaneous pregnancies
R. Robeva1, *(), S. Andonova2, M. Glushkova3, T. Todorov4, A. Elenkova1, A. Savov2, S. Zacharieva1, A. Todorova3, 4
1Department of Endocrinology, Medical Faculty, Medical University-Sofia, Sofia, Bulgaria
2National Genetic Laboratory, University Hospital of Obstetrics and Gynecology "Maichin dom", Medical Faculty, Medical University-Sofia, Sofia, Bulgaria
3Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University-Sofia, Sofia, Bulgaria
4Genetic Medico-Diagnostic Laboratory "Genica", Sofia, Bulgaria
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Abstract  

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.

Key words:  Premature ovarian insufficiency      Fertility      BMP15 genetic variants     
Submitted:  10 November 2018      Accepted:  24 January 2019      Published:  15 June 2020     
Fund: 
Grant 2016, Project 360/2016; Contract 92/2016/Medical University Sofia
*Corresponding Author(s):  RALITSA ROBEVA     E-mail:  rali_robeva@yahoo.com

Cite this article: 

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, 2020, 47(3): 409-411.

URL: 

https://ceog.imrpress.com/EN/10.31083/j.ceog.2020.03.5068     OR     https://ceog.imrpress.com/EN/Y2020/V47/I3/409

Figure 1.  BMP15 p.Ile90Thr variant: A) BMP15 gene location. B) BMP15 p.Ile90Thr variant location. C) Clinical characteristics of the BMP15 p.Ile90Thr variant.

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