Publications by authors named "Elena A Serebryakova"
Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by pronounced polymorphisms in clinical manifestations and the absence of clear phenotype-genotype correlation. The objective of this study was to conduct a comprehensive molecular-genetic and clinical analysis to verify the diagnosis of OI in six Russian patients with genetic variants in the and genes.
View Article and Find Full Text PDFLopes−Maciel−Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations.
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- Floating Harbor syndrome (FHS) is a very rare genetic disorder affecting over 100 people globally, caused by mutations in a specific gene, with limited knowledge on its pathogenesis and treatment effectiveness.
- A case study in Russia presented a male with typical symptoms of FHS, such as short stature and intellectual impairment, and demonstrated that growth hormone (GH) therapy led to modest growth improvements before puberty.
- Whole-exome sequencing identified a specific pathogenic mutation linked to FHS and suggested a new model explaining the nature of these mutations, as well as the observed inefficacy of GH treatment in patients with this syndrome.
Advantages and diagnostic effectiveness of the two most widely used resequencing approaches, whole exome (WES) and whole genome (WGS) sequencing, are often debated. WES dominated large-scale resequencing projects because of lower cost and easier data storage and processing. Rapid development of 3 generation sequencing methods and novel exome sequencing kits predicate the need for a robust statistical framework allowing informative and easy performance comparison of the emerging methods.
View Article and Find Full Text PDFWe report on the phenotype and the reproductive history of an adult female patient with an unbalanced karyotype: 8p23 and 18p11.3 terminal deletions and 8p22 duplication. The indication for karyotyping of the 28-year-old patient was a structural rearrangement in her miscarriage specimen: 45,ХХ,der(8;18)t(8;18)(p23;p11.
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- - The study investigated genetic variants responsible for monogenic diabetes in 60 Russian children diagnosed with non-type 1 diabetes before age 18, utilizing whole-exome sequencing across 35 genes associated with MODY and neonatal diabetes.
- - Researchers identified 38 genetic variants in 55% of patients, with a significant majority linked to MODY-related genes, particularly GCK, while a smaller group had variants in MODY-unrelated genes.
- - The findings suggest a high occurrence of various genetic variants, emphasizing the importance of starting monogenic diabetes diagnostics in Russian children with GCK testing, while also highlighting the effectiveness of whole-exome sequencing for identifying rare variants.
Article Synopsis
- Allele frequency data from large projects like gnomAD are crucial for understanding genetic variations in different populations, but they often overlook underrepresented groups, like the Russian population.
- Researchers analyzed a dataset of 694 exome samples from Northwest Russia to compare genetic variants and estimate the prevalence of autosomal recessive disease alleles.
- Findings revealed that many variants were unique to this population, with notable overrepresentation of pathogenic variants linked to Mendelian disorders, highlighting the importance of localized allele frequency data for diagnosing genetic diseases.
Article Synopsis
- * Recent advancements in high-throughput sequencing technologies have greatly improved our understanding of T2D's genetic factors and molecular causes.
- * The review discusses how these sequencing techniques help identify genetic variants, gene associations, and changes in microbial communities, as well as the challenges of translating this knowledge into practical healthcare solutions.
Article Synopsis
- - The study investigated the genetic basis of Type 2 diabetes (T2D) and obesity in 110 Russian patients using exome sequencing to identify new and known genetic markers related to these diseases.
- - Several significant single nucleotide polymorphisms (SNPs) were linked to obesity, T2D, and body mass index (BMI), demonstrating potential genetic risk factors in the examined population.
- - The findings highlight the effectiveness of whole exome sequencing (WES) in identifying relevant genetic variants for complex diseases like T2D and obesity, even in smaller, under-studied ethnic groups.
PurposeWe comprehensively assessed the influence of reference minor alleles (RMAs), one of the inherent problems of the human reference genome sequence.MethodsThe variant call format (VCF) files provided by the 1000 Genomes and Exome Aggregation Consortium (ExAC) consortia were used to identify RMA sites. All coding RMA sites were checked for concordance with UniProt and the presence of same codon variants.
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