A5048764032- melanin and skin pigmentation
- Cell Adhesion Molecules Research
- Muscle Physiology and Disorders
- Garlic and Onion Studies
- Genetic and Kidney Cyst Diseases
- Hormonal and reproductive studies
- Cancer-related molecular mechanisms research
- Olfactory and Sensory Function Studies
- Tissue Engineering and Regenerative Medicine
- Connexins and lens biology
- Genetic Neurodegenerative Diseases
- Growth Hormone and Insulin-like Growth Factors
- Yersinia bacterium, plague, ectoparasites research
- Moyamoya disease diagnosis and treatment
- Fetal and Pediatric Neurological Disorders
- Caveolin-1 and cellular processes
- Protist diversity and phylogeny
- RNA Research and Splicing
- RNA regulation and disease
- Retinal Development and Disorders
- Sexual Differentiation and Disorders
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
Research Centre for Medical Genetics
2022-2024
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
Background Congenital adrenal hyperplasia (CAH) caused by 3β-HSD deficiency is a rare form of congenital with an autosomal recessive type inheritance. Previously we have demonstrated that single nucleotide variant (SNV) p.Trp230* in the homozygous state frequent cause CAH among indigenous population North Ossetia-Alania represented Ossetians. Methods Genotyping NM_000198.3:c.690G>A was performed Real-time PCR. 339 healthy individuals Ossetian origin were included study. Allele...
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...
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...
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...
Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS caused biallelic pathogenic variants in the
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...
GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.
Here, we described three affected boys from two unrelated families of Ossetian-Digor origin the Republic North Ossetia-Alania who were admitted to Research Centre for Medical Genetics with unspecified muscular dystrophy. High-throughput sequencing was performed and revealed novel frameshift variants in COL6A2 gene (NM_001849.3) a heterozygous state each both cases: c.508_535delinsCTGTGG c.1659_1660del (case 1) c.1689del 2). In cases, same nucleotide variant (c.1659_1660del) observed. We have...