Background. Polycystic ovary syndrome (PCOS) is a common endocrine disorder, accounting for approximately 70–80% of cases of female annovulatory infertility. Genetic factors, including non-coding RNAs, are implicated in the etiology of PCOS.
Aims. To systematize experimental and clinical data on the role of long non-coding RNA H19 in the pathogenesis of PCOS, to examine patterns oflong non-coding RNA H19 dysregulation and its impact on steriogenesis in the blood, follicular environment, and cumulus or granulosa cells, to analyze associations of H19 genepolymorphisms with the risk of developing PCOS, and to evaluate the potential of H19 gene as a diagnostic and therapeutic target.
Methods. Systematic search of PubMed, Scopus, Web of Science, eLIBRARY, and Google Scholar databases for studies published between 2000 and 2025. Keywords: PCOS, long non-coding RNA H19, PCOS, expression, genetic polymorphism. Inclusion criteria: studies involving women diagnosed with PCOS, articles published in English or Russian, studies including genetic analysis and clinical outcomes. Exclusion criteria: reviews without original data, animal studies without clinical relevance, publications without data on genetic polymorphisms.
Results. Long non-coding RNA H19 integrates key pathogenesis factors: the ovarian function of anti-Müllerian hormone mediated by non-coding RNA via thenon-coding RNA H19/has-miR-let-7 axis, proliferative function via histone modification, regulating granulosa cell pyroptosis mediated bynon-coding RNA H19/miR-29a-3p/NLRP3, and influencing CTGF gene expression by targeting miR-19b in PCOS. Non-coding RNA H19 also disrupts steroidogenesis, specifically CYP17 and testosterone production, and affects STAT3 gene in signal transduction and transcriptional activators.
Conclusions. These data indicate thatnon-coding RNA H19 is consistently dysregulated in the blood, follicular fluid, and granulosa and cumulus cells in PCOS patients. The H19 gene has potential as a biomarker and therapeutic target, but large prospective cohorts with standardized phenotyping and appropriate adjustment for confounding factors such as obesity, insulin resistance, and ethnicity are lacking.

Variants affecting pre-mRNA splicing are an established cause of a wide range of hereditary disorders. Experimental validation of aberrant splicing events play an important role in medical genetics in determining the pathogenicity of such variants. However, a key limitation is often the low expression of the target gene in clinically accessible tissues, which makes direct RNA analysis from patient samples impossible. The present work systematizes experimental approaches developed to assess the effects of variants on splicing under conditions of insufficient target gene expression. Furthermore, the possibilities and limitations of each method are discussed, along with their potential role in determining the pathogenicity of variants in hereditary diseases.

Fetal trisomy 16 is one of the frequent causes in first-trimester spontaneous pregnancy losses. Also, it is often found confined to the placenta (confined placental mosaicism), which, according to the literature, may be the cause of complicated pregnancy course. Currently, a noninvasive prenatal testing (NIPT) is widely used to detect risks of fetal chromosomal abnormalities (CA) based on the analysis of cell-free fetoplacental DNA. Whole-genome NIPT allows to determine the risks of rare CAs, including trisomy 16. Here we presented 5 NIPT high-risk cases of trisomy 16 with a complicated course of pregnancy.

Background. Asthma in children is characterized by pronounced clinical heterogeneity, including differences in disease severity. Genetic factors associated with Th2-mediated inflammation may influence not only susceptibility to the disease but also the development of severe forms of asthma. However, the contribution of individual cytokine gene polymorphisms to asthma severity in children remains insufficiently studied.
Objective. To investigate the association of polymorphic variants of the IL4 (rs2243250), IL5 (rs2069812), and IL13 (rs1800925) genes with asthma severity in children.
Methods. A case–control study was conducted including 384 children: 160 patients with asthma of varying severity, classified according to GINA 2024 criteria, and 224 healthy children. Genotyping was performed using real-time polymerase chain reaction. Associations between genotypes and asthma severity were analyzed using ordinal logistic regression with testing of codominant, dominant, recessive, overdominant, and additive inheritance models.
Results. Among the three analyzed polymorphisms, only rs1800925 (C-1112T) of the IL13 gene showed a statistically significant association with asthma severity. The additive inheritance model was the most optimal according to the Akaike information criterion (p = 0.0027), demonstrating a dose-dependent effect: carriers of the C/C genotype had a mean asthma severity score of 0.73, C/T – 0.95, and T/T – 1.29. Polymorphisms of the IL4 and IL5 genes were not significantly associated with asthma severity.
Conclusions. The rs1800925 polymorphism of the IL13 gene is a genetic marker associated with asthma severity in children and may be used for early prediction of disease course.

Noonan syndrome (NS) is a multisystem disease caused by pathogenic variants in genes involved in the RAS/MAPK signaling pathway, with pathogenic/likely pathogenic variants of the PTPN11 gene being the main causative variants in this syndrome. The clinical picture of NS includes a wide range of pathologies, including: facial dysmorphism, growth retardation, heart defects, pigmentation and intellectual development disorders, cryptorchidism, and hearing loss. The incidence of severe congenital sensorineural hearing loss and deafness in the samples of patients with NS varies from 8.7% to 19.1%. With the advent of high-throughput sequencing methods, mutations of the PTPN11 gene have increasingly become detected in non-target samples of patients with nonsyndromic hearing loss. This paper describes a case of previously undiagnosed Noonan syndrome with multiple lentiginious, identified by cascade testing, including WES analysis, in a sample of Buryat patients with congenital hearing disorders. The article discusses similar cases of identification of pathogenic variants in the PTPN11 gene identified in samples of patients with nonsyndromic hearing loss/deafness.

Familial hypercholesterolemia (FH) is a common genetic disease characterized by high levels of total cholesterol and low density lipoprotein cholesterol in the blood. Despite the high prevalence of FH in the world and in Russia, the problem of improving detection of FH remains relevant. Untimely diagnosis of FH leads to premature development of cardiovascular diseases. Here we report a family case of FH in a father and son with severe xanthomatosis and early development of atherosclerosis associated with a previously undescribed pathogenic variant in exon 17 of the LDLR gene p.(Leu799SerfsTer130).

Introduction. The gamete index (GI) is a demographic parameter that quantifies population migration activity by analyzing mother– child pairs. Unlike the endogamy index, which focuses on marital unions, GI reflects reproductive behavior and intergenerational spatial structure.
Objective. To estimate GI in the Ossetian population of North Ossetia–Alania and compare it with GI values in families affected by hereditary disorders.
Methods. To calculate the GI for mother-child pairs, archival data from the genetic epidemiology laboratory of the Federal State Budgetary Scientific Institution «Research Center for Medical Genetics» were used. A total of 980 demographic questionnaires from postreproductive Ossetian women across six districts (Prigorodny, Pravoberezhny, Ardonsky, Alagirsky, Kirovsky, Digorsky) were analyzed. GI was calculated for mother–child pairs (n=2140 children). Additionally, data from 497 affected children and 476 healthy siblings from families with hereditary pathology were examined.
Results. In district centers, GI ranged from 0.13 to 0.60; in rural areas, from 0.42 to 0.81; at the district level, from 0.43 to 0.81. A significant positive correlation was found between GI and the endogamy index (r=0.81±0.29). In families with hereditary disorders, GI for mother– affected child pairs ranged from 0.32 to 0.69, and for mother–all children pairs from 0.29 to 0.65. Correlation with population GI values reached 0.96–0.98.
Conclusion. No significant differences in GI were detected between the general Ossetian population and families with hereditary pathology, indicating a unified demographic structure and supporting the use of population parameters in medical genetic counseling.