The role of the FMR1 gene in the development of reproductive and neurological disorders
Objective. To carry out a systematic analysis of the data available in the current literature on the role of the FMR1 gene in the development of reproductive and somatic diseases in mutation carriers and their offspring.Marchenko L.A., Rshtuni S.D., Zaretskaya N.V., Pikhut P.P., Mashaeva R.I.
Material and methods. The review includes the data of foreign and Russian articles published in in the past 10 years and found in Pubmed on this topic.
Results. This review discusses a set of phenotypic, reproductive, and neurological disorders, which is coupled with the abnormal number of CGG repeats in the FMR1 gene.
Conclusion. The development of new methods for assessing the ovarian reserve is one of the priority scientific and practical tasks in gynecological endocrinology and reproductology. To date, there are no clear hormonal and ultrasound screening tests that can predict premature termination of ovarian function, unlike the FMR1 gene.
Keywords
premature ovarian failure (POF)
FMR1 gene
the number of CGG repeats
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Received 10.10.2017
Accepted 27.10.2017
About the Authors
Marchenko Larisa Andreevna, MD, Professor, Leading Researcher of the Department of Gynecological Endocrinology, Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954388540. E-mail: l.a.marchenko@yandex.ruRshtuni Sandra Jonievna, post-graduate student of gynecological endocrinology department, Research Center of Obstetrics, Gynecology, and Perinatology,
Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954388540. E-mail: rshtunisandra@gmail.com
Zaretskaya Nadezhda Vasilievna, Ph.D., Senior Researcher, Department of Reproductive Genetics Laboratory, Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954382410. E-mail: n_zaretskaya@oparina4.ru
Pikhut Petr Petrovich, resident of the 2nd year of training, Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia.
117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954388540. E-mail: pit-petad@mail.ru
Mashaeva Roza Isstanovna, post-graduate student of the department of gynecological endocrinology, Research Center of Obstetrics, Gynecology, and Perinatology,
Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74954388540. E-mail: mashaevarosa@gmail.com
For citations: Marchenko L.A., Rshtuni S.D., Zaretskaya N.V., Pikhut P.P., Mashaeva R.I. The role of the FMR1 gene in the development of reproductive and neurological disorders.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2018; (3): 22-8. (in Russian)
https://dx.doi.org/10.18565/aig.2018.3.22-28
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