A5101489549- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Digestive system and related health
- Vascular Malformations and Hemangiomas
- Hormonal Regulation and Hypertension
- Schizophrenia research and treatment
- Congenital heart defects research
- Genetic and Kidney Cyst Diseases
- Biochemical and Molecular Research
- Amino Acid Enzymes and Metabolism
- Legal Studies and Reforms
- Neurogenetic and Muscular Disorders Research
- Genetic factors in colorectal cancer
- Cardiac Structural Anomalies and Repair
- Cancer-related molecular mechanisms research
- Pediatric Hepatobiliary Diseases and Treatments
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Cardiac Valve Diseases and Treatments
- Genomics and Rare Diseases
- Blood Pressure and Hypertension Studies
- Attention Deficit Hyperactivity Disorder
- Cholesterol and Lipid Metabolism
- Human Health and Disease
- Functional Brain Connectivity Studies
Research Centre for Medical Genetics
2018-2025
Medizinische Hochschule Hannover
2023
Peoples' Friendship University of Russia
2014-2019
Institute of Biochemical Physics NM Emanuel
2016
Semenov Institute of Chemical Physics
2016
Research Institute of Emergency Childrens Surgery and Traumatology
2016
Regional State Budget Health Care Institution "Regional Clinical Hospital"
2015
Mental Health Research Center of Russian Academy of Medical Sciences
2015
Republican Scientific and Practical Center of Cardiology
2013-2014
Volgograd Regional Clinical Oncology Center
2004
Background and Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%–16%) inherited metabolic diseases (14%–28%). Yet, in up to 50% of cases underlying etiology remains elusive, challenging clinical management, including transplantation. We systematically studied indeterminate PALF referred for genetic evaluation by whole-exome sequencing (WES), analyzed phenotypic biochemical markers, diagnostic yield WES this...
Marfan syndrome (OMIM #154700) is an autosomal dominantly inherited connective tissue disorder caused by mutations in the FBN1 gene and marked significant clinical variability, including cardiovascular manifestations. The causes of this variability remain inadequately studied, relatively few genotype-phenotype correlations have been identified to date. In study, we examined 66 children with identify correlations. Biochemical, functional, genetic research methods were employed, confirming a...
Wilson's disease (WD) (synonyms: Wilson–Konovalov disease, hepatolenticular degeneration, hepatocerebral dystrophy) is a rare, severe, hereditary multisystem disorder that manifests itself primarily in liver, neurological, and psychiatric disorders due to excessive copper deposition organs tissues. The long latent course polymorphism of clinical symptoms make diagnostics difficult. WD childhood, adolescence, later life. based on combination symptoms, laboratory test data (determination...
Background. This study examines the process of food security auditing as a comprehensive assessment system ensuring supply to population. Objective. The research aims outline key directions for and develop indicators quantifying level security. Materials methods. predetermines regulatory framework, well review opinions various authors on problems in Russia. methodological basis were methods analysis, induction, deduction, abstraction context selected topic. Results. explores critical aspects...
The m.13513G>A (p.Asp393Asn) substitution in the MT-ND5 (Mitochondrially Encoded NADH/Ubiquinone Oxidoreductase Core Subunit 5) gene is a common pathogenic variant associated with primary mitochondrial disorders. It frequently causes Leigh syndrome and encephalomyopathy lactate acidosis stroke-like episodes (MELAS). In this study, we present clinical data, heteroplasmy levels various tissues (blood, urine, skin fibroblasts), bioenergetic characteristics from cohort of 20 unrelated...
Germline mutations in CACNA1D cause the primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome (OMIM# 615474) characterized by seizures neurological abnormalities. The authors present a case-report of 1-year 3-month male patient with symptoms such as global developmental delay hyperaldosteronism. heterozygosis disease-causing variant c.776T>A gene was identified.Синдром Первичного альдостеронизма, судорог и неврологических нарушений (PASNA; OMIM# 615474),...
This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis MO typically involves identifying benign bone tumors known as (OCs) through imaging studies physical examinations. However, cases both OCs enchondromas (ECs) may indicate more rare condition metachondromatosis (MC), which assumed to be distinct disease. Previous cohort found heterozygous loss-of-function (LoF) variants only in...
Familial hypercholesterolemia (FH) is caused by mutations in various genes, including the LDLR, APOB and PSCK9 genes; however, spectrum of these Russian individuals has not been fully investigated. In present study, mutation screening was performed on LDLR gene other FH-associated genes patients with definite or possible FH, using next-generation sequencing. total, 59 unrelated were recruited sorted into two separate groups depending their age: Adult (n=31; median age, 49; age range, 23-70)...
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%...
The congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective serum proteins. Here, we examine the case 1-year-old male patient Buryat origin, who presented with dysfunction. At age 3 months, he was hospitalized jaundice hepatosplenomegaly. Whole-exome sequencing identified ATP6AP1 gene missense variant NM_001183.6:c.938A>G...
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....
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...
Abstract A young boy with multifocal epilepsy infantile spasms and hypsarrhythmia minimal organic lesions of brain structures underwent DNA diagnosis using whole‐exome sequencing. heterozygous amino‐acid substitution p.L519R in a PHACTR1 gene was identified. belongs to protein family G‐actin binding phosphatase 1 (PP1) cofactors not previously associated human disease. The missense single nucleotide variant the proband shown occur de novo paternal allele. mutation vitro reduce affinity for...
Background: Hypertriglyceridemia (HTG) is one of the most common forms lipid metabolism disorders. The leading clinical manifestations are pancreatitis, atherosclerotic vascular lesions, and formation eruptive xanthomas. severe type HTG primary (or hereditary) hypertriglyceridemia, linked to pathogenic genetic variants in LPL, APOC2, LMF1, APOA5 genes. Case: We present a case hypertriglyceridemia (TG level > 55 mmol/L 4-year-old boy) consanguineous family. disease developed due previously...
One of the most common neurological symptoms in children first year life is seizures, etiology which manifold. Investigations recent years have shown that a significant number infantile seizures are hereditary nature. The review identifies main groups diseases and syndromes, whose symptom complex convulsions observed, outlines features their clinical manifestations methods diagnosis. Correct timely diagnosis pathology helps not only to determine nature course disease effectiveness use...
Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive that affect multiple organ systems. Approximately 80% PBD patients classifiedin the Zellweger syndrome spectrum, which is generally caused by mutations in PEX1, PEX6, PEX10, PEX12, or PEX26 genes. We present clinical characteristics three male members with cholestatic hepatopathy and developmental delay. Next-Generation Sequencing (NGS) was used to analyze 52 genes responsible for hereditary diseases...
Hyperammonemia due to carbonic anhydrase VA deficiency (OMIM# 615751) is a rare, life-threatening hereditary disease caused by biallelic mutations in the CA5A gene, presenting as encephalopathic hyperammonemia of unexplained origin during neonatal period and infancy. Here, we present detailed description 5-year-old patient with homozygous mutation p.Lys185Lys (c.555G>A) gene. This variant was previously described van Karnebeek et al. 2014 boy Russian origin. We found high frequency carriers...
Background: Initial phases of molecular and cellular maladaptive bone response at early CKD remain mostly unknown. Methods: We induced mild in SHRs by either arterial hypertension lasting six months (sham-operated rats, SO6) or its’ combination with 3/4 nephrectomy two (Nx2 Nx6, correspondently). Sham operated (SO2) Wistar Kyoto rats (WKY2) two-month follow-up served as controls. Animals were fed standard chow containing 0.6% phosphate. measured creatinine clearance, urine...
Tatton–Brown–Rahman syndrome is a rare autosomal dominant hereditary disease caused by pathogenic variants in the DNMT3A gene, which an important participant epigenetic regulation, especially during embryonic development, and highly expressed all tissues. The main features of are high growth, macrocephaly, intellectual disability, facial dysmorphic features. We present clinical case ten-year-old boy with macrocephaly learning difficulties, progressive eye impairment, fatigue suspected deep...
Glycogen storage disease refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations various genes encoding enzymes responsible for the synthesis and breakdown glycogen. Due enzyme defects, excessive glycogen deposition occurs in cells tissues, mainly liver muscles. The authors present modern epidemiological data features etiopathogenesis disease, give clinical characteristics types this nosology. In accordance with developed guidelines, information provided on...
Background . Proteus syndrome is extremely rare congenital multisystem disease with high variability in clinical manifestations. Its prevalence unknown, there are less than 200 cases the world literature. The a classic example of somatic mosaicism, and all target drugs for its management based on it. Clinical case description. This article describes two variants nucleotide sequence AKT1 gene, mosaic form, revealed by NGS method. Target drug (mTOR-inhibitors group) was assigned one case....