Publications by authors named "Viakhireva I"
Article Synopsis
- Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder with 11 genetic subtypes linked to dysfunction in specific protein complexes, leading to symptoms like albinism, bleeding disorders, and visual impairments.
- A study examined 11 patients from eight families with albinism, discovering both novel and previously identified genetic variants related to HPS1, HPS6, and HPS9.
- To devise effective treatment and follow-up strategies, a comprehensive understanding of the disease's clinical and genetic diversity is crucial, often requiring interdisciplinary methods and advanced diagnostic techniques like RNA analysis.
Importance: Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening of known CSVD genes.
Objective: To identify novel genes and mechanisms associated with familial CSVD.
Pathogenic single nucleotide variants (SNVs) found in the COL2A1 gene are associated with a broad range of skeletal dysplasias due to their impact on the structure and function of the Col2a1 protein. However, the molecular mechanisms of some nucleotide variants detected during diagnostic testing remain unclear. The interpretation of missense and splicing variants caused by SNVs poses a significant challenge for clinicians.
View Article and Find Full Text PDFMeier−Gorlin syndrome (MGS) is a rare genetic developmental disorder that causes primordial proportional dwarfism, microtia, the absence of or hypoplastic patellae and other skeletal anomalies. Skeletal symptoms overlapping with other syndromes make MGS difficult to diagnose clinically. We describe a 3-year-old boy with short stature, recurrent respiratory infections, short-rib dysplasia, tower head and facial dysmorphisms who was admitted to the Tomsk Genetic Clinic to verify a clinical diagnosis of Jeune syndrome.
View Article and Find Full Text PDFContext: The syndrome of adrenal insufficiency, obesity, and red hair is a rare autosomal recessive disorder. The majority of disease-causing variants associated with the syndrome are located in the coding region of the POMC gene.
Objective: This work describes 7 unrelated patients who shared a novel homozygous mutation in the 5'-untranslated region (UTR) of the POMC gene and functionally characterize this novel variant.
The amount of human long noncoding RNA (lncRNA) genes is comparable to protein-coding; however, only a small number of lncRNAs are functionally annotated. Previously, it was shown that lncRNAs can participate in many key cellular processes, including regulation of gene expression at transcriptional and post-transcriptional levels. The lncRNA genes can contain small open reading frames (sORFs), and recent studies demonstrated that some of the resulting short proteins could play an important biological role.
View Article and Find Full Text PDFDespite the acceptance of NextGen sequencing as a diagnostic modality suitable for probands and carriers of Mendelian diseases, its efficiency in identifying causal mutations is limited by both technical aspects of variant call algorithms and by imperfect, consensus-based criteria for assessing the pathogenicity of the findings. Here we describe the medical history of the family with a child born with Fanconi anemia. In this case, typical diagnostic routines were complicated by unusual combination of mutations.
View Article and Find Full Text PDFArticle Synopsis
- Cerebral small vessel disease leads to strokes and cognitive issues, often linked to age and hypertension, but some early-onset forms are genetic.
- Researchers identified a harmful variant in the HTRA1 gene in a family with autosomal dominant small vessel disease, using advanced genetic testing methods.
- The presence of this variant was significantly higher in affected individuals compared to controls, indicating it likely contributes to this type of disease, differing in symptoms from well-known forms like CARASIL and CADASIL.