Exome sequencing for diagnosing and predicting uterine and vaginal anomalies


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Abstract

Objective: To identify genetic markers of uterine and vaginal malformations, including complex and rare combinations of other organs and systems abnormalities, by analyzing gene expression and methylation. Materials and methods: Exome sequencing was performed in 21 patients who underwent surgery for uterine and vaginal malformations at the V.I. Kulakov NMRC for OG&P from 2016 to 2020. Results: The study identified pathogenic, probably pathogenic variants, and variants of the unclear significance of the NPHP3, TMEM67, ROBO2, MYRF, TRP6, SRCAP, PROKR2, SPRY4, and GREB1L genes with a high degree of probability associated with the pathogenesis of uterine and vaginal malformations. Conclusion: The study findings suggest the role of genetic factors in the pathogenesis of uterine and vaginal malformations. Allelic variants of the discovered candidate genes associated with uterine and vaginal malformations can be used as markers to assess the risks of developing reproductive system anomalies. Further studies are required to identify the causes of uterine and vaginal malformations. Genetic studies of the patient's parents may provide additional information on the etiology of the disease.

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About the authors

A. S Arakelyan

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: arakelyanac@mail.ru

Je. Shubina

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

A. Yu Popryadukhin

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: inferno_989@mail.ru

A. Yu. Goltsov

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: andrey.goltsov@gmail.com

D. Yu Trofimov

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: d_trofimov@oparina4.ru

L. V Adamyan

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: adamyanleila@gmail.com

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