A5054369414- Retinal Development and Disorders
- Human Health and Disease
- Connexins and lens biology
- Regional Socio-Economic Development Trends
- Retinal Diseases and Treatments
- Nutrition, Genetics, and Disease
- Glaucoma and retinal disorders
- Healthcare Systems and Public Health
- RNA regulation and disease
- Developmental Biology and Gene Regulation
- Photoreceptor and optogenetics research
- Digestive system and related health
- melanin and skin pigmentation
- CRISPR and Genetic Engineering
- Renal and related cancers
- Retinal and Optic Conditions
- Metabolism and Genetic Disorders
- Neurological Disorders and Treatments
- Medical and Biological Sciences
- Wnt/β-catenin signaling in development and cancer
- Ocular Oncology and Treatments
- Ocular Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Retinopathy of Prematurity Studies
- Genetic and Kidney Cyst Diseases
Research Centre for Medical Genetics
2018-2024
ORCID
2021
Keratoconus is a multifactorial degenerative disease including genetic etiology related to corneal ectasia. While diagnostic methods are updated, the condition incidence has increased 1 per 100 patients, and it increasing annually. associated with autosomal recessive or dominant inheritance. The review presents updated data on contribution of factors in keratoconus development humans, as well potential manifestation one symptoms connective tissue dysplasia. Aim: analyze influencing consider...
Purpose. To summarize the accumulated experience in field of studying hereditary retinal pigmented dystrophy, including genetic heterogeneity and phenotypic diversity RP. Material methods. carry out this review, a search was performed for literature sources on PubMed Scopus reference databases period up to 2023. A total 55 related review topic were selected analyzed. Results. Currently, there is an increasing relevance medical diagnostics, which turn leads expansion spectrum causal mutations...
BackgroundAniridia is a severe autosomal dominant panocular disorder associated with pathogenic sequence variants of the PAX6 gene or 11p13 chromosomal aberrations encompassing coding and/or regulatory regions in heterozygous state. Patients aniridia display several ocular anomalies including foveal hypoplasia, cataract, keratopathy, and glaucoma, which can vary severity combination.MethodsA cohort 155 patients from 125 unrelated families identified point (118 patients) large deletions (37...
Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge HDs distribution populations is generally limited to either European data or analyses isolated which were performed several decades ago. Thus, an acknowledgement the prevalence modern open important. The study presents results a genetic epidemiological population Karachay-Cherkess Republic (KChR). Clinical screening 410,367 people for identification was...
Abstract Background Mutations in CRYAA , which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes. Results In this study, we performed clinical examination and subsequent genetic analysis two unrelated sporadic cases different geographical origins presenting complex phenotype ocular malformation. Both manifested bilateral microphthalmia severe anterior segment dysgenesis, primarily characterized by aphakia, microcornea, iris...
Abstract WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development Wilms’ tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It associated with WAGR-region deletions in the 11p13 chromosome region. Our previous study congenital aniridia patients revealed noticeable number but without their medical history. We assessed involvement other neighboring genes from affected regions tumor. Reliable confidence was...
Pathogenic variants in the USH2A gene are primary cause of both non-syndromic autosomal recessive inherited retinitis pigmentosa (RP) and syndromic form, characterized by retinal degeneration sensorineural hearing loss. This study presents a comparative assessment genetic variant spectrum among Russian patients two clinical groups. A retrospective analysis was conducted on massive parallel panel sequencing data from 2415 blood samples unrelated suspected having hereditary diseases. The copy...
Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case primary from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. Clinical exome sequencing proband revealed novel homozygous single nucleotide deletion in ASPM gene, c.1386delC, resulting preterm termination codon. Population screening reveals allele frequency to be less than 0.005. Mutations this gene were not previously associated Our...
Pathogenic variants in the RPE65 gene cause only known form of inherited retinal degenerations (IRDs) that are prone to therapy. The current study is aimed at evaluation prevalence RPE65-associated retinopathy Russian Federation, characterization gene, and establishment specificities mutation spectrum patients. Methods: analysis was carried out on blood samples obtained from 1053 non-related IRDs analysis, which consisted 211 genes, based method massive parallel sequencing (MPS) for all...
The issue of point prevalence, cumulative prevalence (CP), and burden rare hereditary diseases (RHD), comprising 72-80% the group diseases, is discussed in many reports an urgent problem, which associated with rapid progress genetic technology, identification thousands genes, resulting problems society. This work provides epidemiological analysis groups most common RHDs (autosomal dominant, autosomal recessive, X-linked) their (PP) describes structure RHD diversity by medical areas 14...
Aim: genetic epidemiological study of hereditary eye diseases in various populations the Russian Federation and comparative analysis these findings. Patients Methods: sample included 12 ethnic groups from 14 regions European Russia. The entire population irrespective gender or age was examined. To confirm a certain type inheritance heterogeneous groups, material subjected to multicomponent used multiple family registration. rate segregation evaluated using Weinberg proband method. Molecular...
This study investigates the distribution of PAX6-associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while characterizing PAX6 gene variants. We contribute novel pathogenic variants 11p13 chromosome region rearrangements to international databases based on a cohort 379 AN patients (295 families, 295 probands) in Russia. detail 100 newly characterized families (129 patients) recruited from clinical practice specialized screening studies. Our...
Abstract Background Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or symptom hereditary syndromes (chromosomal monogenic). Thus, diagnostic search in some cases can be time- and cost-consuming. The most challenging situation arise when prenatal diagnosis needed during ongoing pregnancy. Case presentation A family was referred to the Research Centre for Medical Genetics (RCMG) childbirth risk prognosis at 7–8...
Abstract Background Because of the significant occurrence “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases aniridia due to its help making an early WAGR syndrome. Standard cytogenetic karyotype study a necessary step molecular diagnostics patients with and patients’ parents as it reveals complex chromosomal rearrangements risk having another affected child, well provide prenatal and/or preimplantation...
Myotonic dystrophy type 1 (DM1) is a multisystem disorder with progressive myopathy and myotonia. The clinical study was conducted in the Republic of North Ossetia-Alania (RNOA), it 39 individuals from 17 unrelated families were identified DM1. Clinical presentations varied, including muscle weakness, fatigue, intellectual disability, hypersomnia, ophthalmological abnormalities, alopecia. Using genotyping data, we confirmed diagnosis enabled CTG-repeat anticipation DM1 prevalence Ossetian...
Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of BLOC protein complex (Biogenesis Lysosome-related Organelles Complexes), and subunits AP-3 (adaptor complex). Each has its own features, but they all characterized by albinism, bleeding disorder, visual abnormalities. Eleven patients from eight unrelated families an incoming diagnosis albinism were examined novel...
Inherited retinal dystrophies (IRD) is an extensive group of genetically heterogeneous diseases with significant clinical polymorphism. With the development gene therapy, a new era in treatment hereditary human has opened. To date, studies number medications are performed world over, including those intended for eye (Leber congenital amaurosis (LCA), retinitis pigmentosa, achromatopsia, Stargardt's disease, choroideremia, etc.). The varieties two former conditions, specifically LCA type 2...
The Hermansky-Pudlak syndrome (OMIM#203300) is a hereditary genetically heterogeneous disease with an autosomal recessive type of inheritance. There are 11 clinical-genetic subtypes similar clinical manifestations, but some may difference each other clinically. most common 1 syndrome. Purpose: Describe the features picture and diagnosis 1. Materials methods: complex clinic-instrumental molecular-genetic results from 2 patients one family incoming albinism used. Result: An interdisciplinary...