A5062051233- Connective tissue disorders research
- Bone Metabolism and Diseases
- Cell Adhesion Molecules Research
- Ubiquitin and proteasome pathways
- Bone and Dental Protein Studies
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Bone health and treatments
- Fibroblast Growth Factor Research
- Medical and Biological Sciences
- interferon and immune responses
- Dermatological and Skeletal Disorders
- Congenital limb and hand anomalies
- Fetal and Pediatric Neurological Disorders
- Genetic Syndromes and Imprinting
- Hedgehog Signaling Pathway Studies
- Bone Tumor Diagnosis and Treatments
- Genetic factors in colorectal cancer
- Protist diversity and phylogeny
- Hypertrophic osteoarthropathy and related conditions
- Microtubule and mitosis dynamics
- Nuclear Structure and Function
- Signaling Pathways in Disease
- Wnt/β-catenin signaling in development and cancer
- Immunodeficiency and Autoimmune Disorders
Research Centre for Medical Genetics
2020-2024
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...
The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a and genetic analysis individual nosological variants, which will contribute improving our understanding pathogenetic mechanisms prognosis. We presented characteristics 60 Russian pediatric patients with type II collagenopathies caused by previously described newly identified variants COL2A1 gene. Diagnosis confirmation was carried out new generation sequencing...
Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type inheritance, characterized by combination specific features such as disproportionate nanism, generalized osteosclerosis, and distinct craniofacial dysmorphism. Radiographic include acro-osteolysis the distal phalanges in association sclerosing bone lesions multiple fractures. The polymorphism clinical manifestations pycnodysostosis low prevalence disorder lead to difficulties...
Multiple epiphyseal dysplasias (MED) are a clinically and genetically heterogeneous group of skeletal with predominant lesion in the epiphyses tubular bones. Variants SLC26A2 gene cause their autosomal recessive form (rMED or MED type 4). The accumulation data regarding genotype−phenotype correlation can help diagnosis proper management these patients. aim this study was to survey clinical genetic characteristics 55 patients 4 caused by variants gene. Diagnosis confirmation carried out...
Abstract Background Stickler syndrome (STL) is a clinically variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, orofacial abnormalities. STL mainly inherited in an autosomal dominant pattern with mutations the COL2A1 , COL11A1 COL11A2 genes. Autosomal recessive forms are rare. However, 19 patients have been reported to date, caused homozygous or compound heterozygous genes that encode for three chains of type IX collagen: COL9A1 COL9A2...
(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP characterized impaired bone mineral metabolism due to low enzymatic activity of TNSALP. Knowledge about structure and features functions various variants, taking into account population specificity, gives an understanding hereditary nature disease, contributes diagnosis, prevention, treatment disease. The purpose...
Here we present a patient with cranioectodermal phenotype associated pathogenic variants in the IFT140 gene. Most frequently, correspond to of Mainzer-Saldino syndrome. Only four patients have previously been described this and IFT140. In comparison other IFT140-cranioectodermal patients, our proband had similar skeletal features among early onset end-stage renal failure that required kidney transplantation but did not common ophthalmological such as retinopathy, optic nerve atrophy, or...
Introduction . Juvenile idiopathic arthritis (JIA) is a common multifactorial disease characterized by the presence of chronic inflammation in joints, entheses and other structures musculoskeletal system combination with certain range extraskeletal disorders. Vast variety JIA clinical variants variability course make primary differential diagnosis difficult, which often leads to delayed start treatment an inadequate choice medical therapy or, conversely, excess medication. In diagnostic...
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. Multiple epiphysal dysplasia (MED) type 1 (OMIM: 132400) is one of 7 genetic variants this group skeletal dysplasias described to date. The disease caused by mutations in the COMP gene located on chromosome 19p13.1. presence muscle hypotonia and ligamentous laxity, as well a moderate increase level creatinephosphokinase activity, can lead misdiagnosis myopathy. Objective : analyze clinical characteristics MED series Russian patients. Differential diagnosis was focused distinctive...
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,...
Multiple epiphyseal dysplasia type 1 is one of the most common autosomal dominant types genetically heterogeneous group skeletal dysplasias characterized by impaired ossification epiphyses long bones. To date, it known that disease caused heterozygous variants in COMP gene and a significant variability clinical manifestations. We report first case patient with MED novel homozygous single nucleotide variant c.2170dupG (p.Val724Glyfs*20) identified whole-exome sequencing. The following...
BACKGROUND: Achondroplasia and pseudoachondroplasia are hereditary systemic skeletal dysplasias characterized by a certain similarity of clinical manifestations; however, they have different etiopathogenetic mechanisms confirmation methods for molecular genetic diagnosis. Their common phenotypic features often make differential diagnosis difficult during the examination patients, planning DNA diagnostics, appropriate time detection neurosurgical orthopedic complications. AIM: This study...
Background . Primary hypertrophic osteoarthropathy is a rare genetically heterogeneous disease with three clinical variants. The classic one combination of hyperostosis, arthropathy and pachyderma two variants damage to only bone structures or pachyderma. Two genes responsible for the occurrence primary have been identified: HPGD (debut age up year) SLCO2A1 in puberty adolescence), whose products are involved prostaglandin E2 metabolism. recurrent were identified gene:...
BACKGROUND: Osteoporosis–pseudoglioma syndrome (OMIM #259770) is an ultrarare autosomal recessive disease characterized by congenital or infant blindness, severe osteoporosis, and spontaneous bone fractures. The caused pathogenic variants in the LRP5 gene, which encodes a protein involved transmission of signals Wnt/β-catenin signaling pathway. To date, 77 associated with osteoporosis–pseudoglioma have been registered LRP5, mainly localized second third beta-propeller domains protein, high...
Relevance. Acromezomelic dysplasia Maroteaux type (AMDM) is a rare variant of autosomal recessive skeletal disorder. The disease caused by mutations in the NPR2 gene, coding protein product which one main regulators endochondral ossification. To date, 49 this gene have been identified, more than half are missense substitutions. presence polymorphism phenotypic manifestations makes it necessary to describe features clinical and radiological characteristics patients with newly identified will...
Представлены результаты анализа эффективности использования методов ДНК для диагностики наследственных скелетных дисплазий (НСД) на основе выборки из 270 российских пациентов. Показано, что использование различных молекулярно-генетических позволяет уточнить диагноз у 74% больных с клиническими и рентгенологическими признаками системных поражений скелета. Подсчитаны частоты встречаемости восьми групп НСД. наиболее часто диагностируются FGFR3-хондродисплазии, коллагенопатии болезни,...
Introduction . Metaphyseal chondrodysplasia, McKusick type (MCD) (OMIM: #250250) (cartilage-hair hypoplasia) is a rare, autosomal recessive disorder with main clinical manifestations including disproportionate short stature, hair thinning and hypotrichosis. Some patients MCD develop cellular humoral immunodeficiency, bronchiectases Hirschsprung disease. Such have an increased risk of developing malignant tumors hypoplastic anemia. one the rare monogenic disorders caused by mutations in RMRP...
Болезнь Краббе (БКр) - редкое наследственное аутосомно-рецессивное заболевание, входящее в группу лизосомных болезней накопления. Заболевание обусловлено мутациями гене GALC, приводящими к дефициту фермента галактозилцерамидазы. Частота БКр оценивается как 1:100 000 живых новорожденных, хотя некоторых странах регистрируется более высокая частота заболевания. Точная Российской Федерации и ее регионах неизвестна. Мажорной мутацией, приводящей развитию БКр, является крупная делеция...
BACKGROUND: Geleophysic dysplasia and acromicric are rare hereditary diseases characterized by dwarfism dysplastic skeletal features. In the literature, only a few cases of geleophysic caused mutations in FBN1 gene described. CLINICAL CASES: A description clinical genetic characteristics three female patients with acromelic dysplasias types missense is presented. two patients, on basis manifestations radiographic examination, dysplasia, one patient were diagnosed. It was shown that all...
Introduction. Desbuquois dysplasia is a rare skeletal with an autosomal recessive inheritance, resembling to the group of multiple joint dislocations. The disease caused by mutations in CANT1 and XYLT1 genes, protein products which are involved degradation proteoglycans, play important role endochondral ossification. polymorphism clinical radiological characteristics genetic heterogeneity necessitate description phenotypic patients various types mutations, optimize diagnosis. Objective three...