The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss Full article

Journal

International Journal of Molecular Sciences
ISSN: 1661-6596 , E-ISSN: 1422-0067

Output data

Year: 2023, Volume: 24, Number: 24, Article number : 17572, Pages count : DOI: 10.3390/ijms242417572

Authors

Maksiutenko Evgeniia M. ¹ , Barbitoff Yury A. ¹ , Nasykhova Yulia A. ¹ , Pachuliia Olga V. ¹ , Lazareva Tatyana E. ¹ , Bespalova Olesya N. ¹ , Glotov Andrey S. ¹

Affiliations

1	Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, Mendeleevskaya Line 3, 199034 St. Petersburg, Russia

Pregnancy loss is the most frequent complication of a pregnancy which is devastating for affected families and poses a significant challenge for the health care system. Genetic factors are known to play an important role in the etiology of pregnancy loss; however, despite advances in diagnostics, the causes remain unexplained in more than 30% of cases. In this review, we aggregated the results of the decade-long studies into the genetic risk factors of pregnancy loss (including miscarriage, termination for fetal abnormality, and recurrent pregnancy loss) in euploid pregnancies, focusing on the spectrum of point mutations associated with these conditions. We reviewed the evolution of molecular genetics methods used for the genetic research into causes of pregnancy loss, and collected information about 270 individual genetic variants in 196 unique genes reported as genetic cause of pregnancy loss. Among these, variants in 18 genes have been reported by multiple studies, and two or more variants were reported as causing pregnancy loss for 57 genes. Further analysis of the properties of all known pregnancy loss genes showed that they correspond to broadly expressed, highly evolutionary conserved genes involved in crucial cell differentiation and developmental processes and related signaling pathways. Given the features of known genes, we made an effort to construct a list of candidate genes, variants in which may be expected to contribute to pregnancy loss. We believe that our results may be useful for prediction of pregnancy loss risk in couples, as well as for further investigation and revealing genetic etiology of pregnancy loss.

Maksiutenko E.M. , Barbitoff Y.A. , Nasykhova Y.A. , Pachuliia O.V. , Lazareva T.E. , Bespalova O.N. , Glotov A.S.
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss
International Journal of Molecular Sciences. 2023. V.24. N24. 17572 . DOI: 10.3390/ijms242417572 WOS Scopus РИНЦ OpenAlex

Published online:

Dec 17, 2023

Web of science:	WOS:001130740800001
Scopus:	eid_2-s2.0-85180654603
Elibrary:	57708368
OpenAlex:	W4389885032

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