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Abstracts from the 53Rd European Society of Human Genetics (ESHG) Conference: E-Posters European Journal of Human Genetics (2020) 28:798–1016 https://doi.org/10.1038/s41431-020-00741-5 ABSTRACTS COLLECTION Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters © European Society of Human Genetics 2020. Modified from the conference website and published with permission 2020 Volume 28 | Supplement 1 Virtual Conference June 6-9, 2020 Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections. 1234567890();,: 1234567890();,: Disclosure Information: In order to help readers form their own judgments of potential bias in published abstracts, authors are asked to declare any competing financial interests. Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered “Modest”. Contributions above EUR 10 000.- per year are considered “Significant”. Presenting authors are indicated with bold typeface in the contributor lists. e-Posters improve the prevention and treatment of congenital malformations. E-P01 Reproductive Genetics/Prenatal Genetics Material and methods: The data from Medical Genetic Center Register was analyzing by the MedCalc 15.8 E-P01.07 program. Epidemiological monitoring of congenital malforma- Results: The incidence rate of congenital malformations tions in Yakutia from 2007 to 2018 over a 12-year period averaged 29.4 cases per 1000 newborns with a standard deviation of 2.9. It’s high A. I. Fedorov1, A. L. Sukhomyasova1,2, A. N. Sleptsov2,1,N. indicator In Russia (>20 ‰). At this period, the average R. Maksimova1 annual number of births was 15725.7 (SD 1174.3). The high frequencies of malformations in 2012, 2017 and 2018 1Research Laboratory “Molecular Medicine and Human was observing (Table 1). The observed differences are Genetics”, Medical Institute, M. K. Ammosov North- statistically significantly (p < 0.05). Eastern Federal University, Yakutsk, Russian Federation, 2Medical Genetic Center, Republican Hospital №1 – Table 1. Congenital malformations prevalence “ ” National Medical Center , Yakutsk, Russian Federation Years Incidences with 95% CI Introduction: Congenital malformations represent an 2007 0.0296 (0.02694-0.03246) urgent problem that affects the structure of infant and child 2008 0.02734 (0.02479-0.03008) mortality. In Yakutia, the prevalence of congenital mal- 2009 0.02743 (0.02492-0.03012) formations is recording in Register of Medical Genetic 2010 0.02893 (0.02636-0.03168) Center, Republican Hospital №1-“National Medical 2011 0.02981 (0.02723-0.03258) Center”. The purpose of epidemiological monitoring is to 2012 0.03336 (0.03067-0.03622) Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters 799 and rs560654095. The frequency of the rs34957925 minor Years Incidences with 95% CI variant in the endometriosis group corresponded its rate in 2013 0.0273 (0.02485-0.02992) European populations. The frequency of the minor 2014 0.02704 (0.02463-0.02963) rs560654095 variant was 0.061 (G-0.00001, 1000 2015 0.02527 (0.02289-0.02783) Genomes). Conclusions: fi 2016 0.02977 (0.0271-0.03263) We did not found statistically signi cant differences in allele frequencies of EM patients and control 2017 0.03265 (0.02973-0.03579) groups for the polymorphic variants the WNT7A, TWIST1 2018 0.03464 (0.03154-0.03797) and WNT4 genes. In endometriosis patients a high representation (6%) of the rs560654095 minor allele was Conclusion: Thus, Yakutia is region with a high found. The HOXA10 gene product binds to the β-actin frequency of congenital malformations, and in recent years promoter and regulates its expression in the endometrium. an increase the frequency of their registration. The Further studies are in progress to check this unusual finding. prevalence of congenital malformations is vary at approx- This work was financially supported by the Russian Science imate intervals of 4-5 years and increase tendency may Foundation (No. 19-15-00108) persist for several years because improved diagnostic N.S. Osinovskaya: None. N.Y. Shved: None. O.V. methods. Malysheva: None. M.I. Yarmolinskaya: None. V.S. Research is part of the project FSRG-2020-0014 “Arctic Baranov: None. Genomics: epidemiology, heredity and pathology”. A.I. Fedorov: None. A.L. Sukhomyasova: None. A.N. E-P01.12 Sleptsov: None. N.R. Maksimova: None. NFE2L2 and JUN transcription study in fetal and maternal tissues of women with pregnancy loss in the E-P01.09 first trimester Analysis of the minor allele frequency of WNT7A (rs2639607), WNT4 (rs7521902), TWIST1 (rs4721745) E. Mashkina, K. Kovalenko and HOXA10 gene (exon2) in women with presumably hereditary forms of endometriosis. Southern Federal University, Rostov-on-Don, Russian Federation N. S. Osinovskaya1,2, N. Y. Shved1, O. V. Malysheva1,M.I. Yarmolinskaya1, V. S. Baranov1 Background: The cells constantly interact with many sig- naling molecules. This leads to dynamic changes in the 1Ott’s Scientific Research Institute of Obstetrics, Gynecol- spectrum of expressed genes. Nrf2 and JUN are transcrip- ogy and Reproductology, St. Petersburg, Russian Federa- tion factors that are involved in maintaining intracellular tion, 2North-Western State Medical University named after redox homeostasis, which is necessary for cells proliferation I.I. Mechnikov, Saint-Petersburg, Russian Federation and differentiation. These transcription factors activate the antioxidant defense of cells from oxidative stress. In current Introduction: According to GWAS, over 100 genes are work, we investigated the expression of NFE2L2, JUN, associated with development of endometriosis (EM) - SOD1 genes in chorionic and decidual tissues after spon- common gynecologic disorder. The present work was taneous abortion compared to normal first trimester devoted to the study of exon 2 polymorphism in HOXA10 pregnancies. gene as well as the frequency of minor allelic variants of the Materials and methods: Samples of chorionic tissue and WNT7A, WNT4, TWIST1 genes. decidua were taken after surgical termination of normally Materials and methods: DNA samples extracted from progressing pregnancies and spontaneous abortion in 5-9 peripheral blood of 41 patients with laparoscopically proved week of gestation. RNA expression was analyzed using endometriosis and 43 ones from the control cohort were quantitative real-time PCR method. Data were analyzed used. Real-time PCR was applied to analyze allelic variants using the 2-ΔΔCT method. of the WNT7A, WNT4, TWIST1 genes. Sanger sequencing Results: The transcription level of the NFE2L2, JUN, of the 2nd exon of the HOXA10 gene was performed in 41 SOD1 genes is significantly higher in decidual tissue cells patients with proved endometriosis. compared to chorion cells during normal pregnancy Results: The frequencies of the minor variants: (p<0.0001). Thus, the tissue-specific transcription level of rs12639607 (WNT7A), rs4721745 (TWIST1), rs7521902 the NFE2L2, JUN, SOD1 genes has been revealed for (WNT4) corresponded its rate in European populations. In physiological pregnancy. The correlation in the mRNA the HOXA10 gene, we identified two variants: rs34957925 levels of the JUN, NFE2L2 and SOD1 genes was detected 800 J. del Picchia in decidua. In chorionic tissue during normal pregnancy, the This report stresses the importance of molecular diagnosis level of mRNA of the SOD1 gene is directly proportional to in IP for genetic counseling of the entire family. the mRNA of the NFE2L2 gene (r=0.81 p=0.0002). With S. Koka: None. O. Lobel: None. E. Zivi: None. Z. Ben- miscarriage the level of mRNA of the JUN gene in the Neriah: None. A. Frumkin: None. O. Weiss: None. S. chorionic tissue is significantly higher compared to the Zeligson: None. R. Segel: None. control. Conclusion: The results demonstrated that high JUN E-P01.18 transcription level in chorionic tissue could be associated Reciprocal 7p deletion-7q duplication in a malformed with miscarriage in first trimester of pregnancy. fetus due to maternal inversion of chromosome 7 - E. Mashkina: None. K. Kovalenko: None. cytogenetic and microarray analysis E-P01.14 M. Hristova-Savova1, R. Bozhilova2, V. Peycheva2, Prenatal diagnosis of Xq28 microdeletion including exon E. Dimova3, K. Belemezova1, S. Yovinska1, M. Rizov1, 10 of IKBKG gene in male fetus with increased nuchal P. Chaveeva1, A. Shterev1, R. Kaneva2, I. Dimova1,2 translucency and hydrops and a family history of Incontinentia Pigmenti 1SAGBAL "Dr Shterev", Sofia, Bulgaria, 2Molecular Medicine Center, Medical University Sofia, Sofia, Bulgaria, S. Koka1, O. Lobel1, E. Zivi1, Z. Ben-Neriah1, A. Frumkin2, 3RWTH, Aachen, Germany O. Weiss1, S. Zeligson1, R. Segel1 Pericentric inversions occur in human with a frequency of 1Shaare Zedek Medical Center, Jerusalem, Israel, 1-2% of general population. These balanced chromosomal 2Cytogenetics Lab, Department of Genetics, Hadassah rearrangements do not cause any problem for the carrier, Medical Center, Jerusalem, Israel but during meiosis there is a risk of inversion loop for- mation in the offspring leading to de novo duplication, Introduction: Incontinentia Pigmenti (IP), is an X-linked deletion or a combination of both [duplication q/deletion p dominant Male-lethal disorder, caused by devastating (dup q/del p) or del q/dup p]. Significant numbers of mutations in IKBKG gene. A recurrent exon 4_10 deletion recombinants are produced when the inverted segment in the IKBKG gene accounts for 60 to 80% of IP-causing size is >50% of the total length of the affected chromo- mutations, but other point mutations along the gene as well some. We report here a case of prenatal diagnostics of a as exon 10 (which include the zinc-finger domain) trun- fetus with multiple anomalies: severe growth retardation, cating mutation were described previously. enlarged third ventricle, agenesis of ductus venosus, and Materials and methods: Chromosomal Microarray cyst of the blood cord. Cytogeneic analysis was performed Analysis (CMA) was performed in chorionic villi sample after amniocentesis and pathologic duplication of chro- of aborted pregnancy of fetus with increased nuchal mosome 7q was revealed.
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