A5072803670- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Congenital heart defects research
- Tuberous Sclerosis Complex Research
- Sexual Differentiation and Disorders
- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
- Genetic Neurodegenerative Diseases
- Cancer Genomics and Diagnostics
- Connexins and lens biology
- Genetic and Kidney Cyst Diseases
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Neurofibromatosis and Schwannoma Cases
- Growth Hormone and Insulin-like Growth Factors
- Prenatal Screening and Diagnostics
- Metabolism and Genetic Disorders
- Porphyrin Metabolism and Disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Heme Oxygenase-1 and Carbon Monoxide
- Hedgehog Signaling Pathway Studies
- ATP Synthase and ATPases Research
- Renal and related cancers
Research Centre for Medical Genetics
1992-2025
Hudson Institute
2024
John Wiley & Sons (United States)
2024
LAMA2-associated muscular dystrophy is a rare genetic disorder caused by pathogenic or likely variants in the LAMA2 gene. The aim of this study to characterize spectrum pathogenic/likely gene among Russian patients, identify frequent specific population, and estimate prevalence Russia. Data were collected analyzed from patients with confirmed diagnoses using various molecular methods research centers 2008 2024. obtained 90 unrelated dystrophy, out which 83 presented more severe form, MDC1A1,...
Effective molecular diagnosis of congenital diseases hinges on comprehensive genomic analysis, traditionally reliant various methodologies specific to each variant type-whole exome or genome sequencing for single nucleotide variants (SNVs), array CGH copy-number (CNVs), and microscopy structural (SVs). We introduce a novel, integrative approach combining with chromosome conformation capture, termed Exo-C. This method enables the concurrent identification SNVs in clinically relevant genes SVs...
Objective Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity best treatment options remains inadequate. We therefore aimed analyze electroclinical features functional effects variants establish genotype–phenotype correlations. Methods Genetic data 27 individuals (22 unrelated 2 families) harboring 20 different...
Congenital myopathy associated with pathogenic variants in the STAC3 gene has long been considered native American (NAM). In 2017, first case of a non-Amerindian patient this was described. Here, we report Russian NAM. The is 17-year-old female compound-heterozygous single nucleotide gene: c.862A>T, p.(Lys288Ter) and c.93del, p.(Lys32ArgfsTer78). She milder phenotype than earlier described patients. To our knowledge, who had both nonsense frameshift variants. It assumed that variant...
Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been growing interest studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it impossible to establish clinical diagnosis without complex diagnostics. We examined 198 IDD from 171 families using whole-exome sequencing chromosome microarray analysis. Hereditary forms account at least 35.7%...
Alagille syndrome (ALGS) is a multisystem condition characterized by cholestasis and bile duct paucity on liver biopsy variable involvement of the heart, skeleton, eyes, kidneys, face caused pathogenic variants in JAG1 or NOTCH2 gene. The expressivity clinical phenotype lack genotype-phenotype correlations lead to significant diagnostic difficulties. Here we present an analysis 18 patients with who were diagnosed ALGS. We used NGS panel targeting coding exons 52 genes, including genes....
Noonan syndrome is a group of diseases with similar clinical picture, consisting 16 caused by mutations in 15 genes. According to the literature, approximately half all cases are attributed type 1, NSML, PTPN11 gene. We analyzed 456 unrelated probands using gene panel NGS, and 206 cases, cause disease was identified. Approximately (107) were variants gene, including three previously undescribed variants, one which classified as VOUS, other two LP causative complex alleles. Frequent...
oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form autosomal recessive albinism, caused by mutations in the
Here, we report a novel truncating mutation in the ubiquitin-specific peptidase gene (USP53) causing low-γ-GT (GGT) cholestasis. Genetic testing was carried out, including clinical exome sequencing for proband and Sanger his parents. The harbored c.1017_1057del (p.(Cys339TrpfsTer7)) ubiquitin carboxyl-terminal hydrolase (UCH) domain of USP53; describe laboratory features patient with rare type low-GGT cholestasis caused by this variant. presentation found to be similar that phenotypes...
To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder.A combination of exome sequencing and gene matching tools was used to identify pathogenic variants 17 individuals. Quantitative reverse transcription polymerase chain reaction (RT-qPCR) subcellular localization studies were characterize expression profile localization.Biallelic TMEM222 identified individuals from nine unrelated families, presenting intellectual disability variable...
We present a patient with unusual episodes of muscular weakness due to homozygous deletion exon 2 in the MICU1 gene. Forty-three patients from 33 families were previously described and compound heterozygous, predominantly loss function (LoF) variants gene that lead autosomal recessive myopathy extrapyramidal signs. Most developed muscle elevated CK levels, half had progressive signs learning disabilities. Our few severe acute minimal features between strongly Creatinine Kinase (CK). Whole...
Синдром «Блефарофимоз-птоз-обратный эпикант» (БПЭС) - заболевание, характеризующееся пороками развития век: птозом, блефарофимозом и наличием обратного эпиканта или телеканта. БПЭС у женщин может сопровождаться синдромом преж-девременного истощения яичников связанным с ним бесплодием. В настоящей работе суммированы результаты генетического исследования 24 больных из 19 неродственных семей направительным диагнозом БПЭС. результате анализа всей кодирующей последовательности гена FOXL2 мутации...
Abstract Effective molecular diagnosis of congenital diseases hinges on comprehensive genomic analysis, traditionally reliant various methodologies specific to each variant type—whole exome or genome sequencing for single nucleotide variants (SNVs), array CGH copy-number (CNVs), and microscopy structural (SVs). We introduce a novel, integrative approach combining with chromosome conformation capture, termed Exo-C. This method enables the concurrent identification SNVs in clinically relevant...
Background. SaulWilson syndrome (SWS, microcephalic osteodysplastic dysplasia) is a rare genetic variant of skeletal dysplasia and determined based on the modern classification for thin bone dysplasias. To date, 16 patients with SWS from different countries have been identified. Clinical cases. We presented first description clinical characteristics two Russian compared them published data. The main manifestations are characterized by combination nanism pathology long tubular bones, spine,...
BACKGROUND: Ciliopathies include the large group of hereditary diseases caused by mutations in genes encoding primary cilia components. The largest type skeletal ciliopathies is short-rib thoracic dysplasia. AIM: This study describes clinical and genetic characteristics Russian patients with STRD or without polydactyly DYNC2H1, DYNC2I2, IFT80, IFT140. MATERIALS AND METHODS: A comprehensive examination 10 unrelated children aged from 9 days to years, phenotypic signs dysplasia polydactyly,...