Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it is impossible to establish a clinical diagnosis without complex genetic diagnostics.

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Pathogenic variants in the gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome. Large proportions of reported pathogenic variants in are annotated as missense variants and are often classified as variants of uncertain significance when no functional data are available. Although loss-of-function variants are associated with a more severe phenotype in , the molecular mechanism of single nucleotide variants is often not clear, and genotype-phenotype correlations in -related epilepsy remain uncertain.

Ethnic Differences in the Frequency of Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the gene. The distribution and frequency of variants vary in different countries and ethnic groups. The spectrum of pathogenic variants of the gene was previously studied in more than 1,500 CF patients from different regions of the European and North Caucasian region of Russia and the spectrum of the most frequent pathogenic variants of the gene and ethnic features of their distribution were determined.

Synthesis and Excretion of Atrial Natriuretic Peptide in Secretory Cardiomyocytes in Experimental Hypertension.

The intensity of accumulation and excretion of atrial natriuretic peptide in myocytes of the right atrium in rat models of renovascular hypertension and salt loading was studied by immunocytochemical analysis and transmission electron microscopy. The data suggest that high BP is not the decisive factor affecting secretion of atrial natriuretic peptide in atrial cardiomyocytes. The regulatory mechanisms of the accumulation and release of the peptide from myocyte granules can vary and depend on the pathogenesis of hypertension.

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge of HDs distribution in populations is generally limited to either European data or analyses of isolated populations which were performed several decades ago. Thus, an acknowledgement of the HDs prevalence in different modern open populations is important.

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.

The genetic load and diversity of monogenic hereditary diseases (HD) in the Russian population of Karachay-Cherkess Republic (KCHR), living in 10 administrative and municipal divisions, were studied. The total size of the population surveyed was 410,367 people, including 134,756 Russians. In total, 385 patients from 281 families were registered among Russians of KCHR.

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.

Background: Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome.

Case Presentation: Clinical exome sequencing of the proband revealed a novel homozygous single nucleotide deletion in ASPM gene, c.

Clouston syndrome: first case in Russia.

Hidrotic ectodermal dysplasia type 2 (HED2) or Clouston syndrome (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis, and palmoplantar hyperkeratosis. Here we describe the first case of Clouston syndrome in Russia and the molecular genetic analysis of this case.

[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].

Search for mutations in the connexin 26 gene (GJB2) is a routine molecular-genetic analysis ofthe hereditary deafness worldwide. However, till now there is no assessment of the diagnostic significance of this analysis for Russian patients, and there are difficulties in interpretation of the results of DNA diagnostics. In the present study, a sample of 705 patients with nonsyndromic autosomal recessive deafness from different regions of Russian Federation was investigated.

[Genetic epidemiological study of Bashkortostan Republic: the diversity of monogenic hereditary diseases in five districts].

The diversity of monogenic hereditary diseases (HDs) (autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases) has been studied in five districts of Bashkortostan Republic: Burzyanskii, Abzelilovskii, Baimak, Salavatskii, and Arkhangel'skoe raions. The spectrum of HDs comprised 144 diseases, including 83, 48, and 13 Ad, AR, and X-linked diseases. Most of them were found earlier during studies in ten other regions of Russia (Kirov, Kostroma, Tver', Bryansk, and Rostov oblasts, and Krasnodar krai, and the republics of Adygea, Marii El, Udmurtia, and Chuvashia).

[Genetic epidemiological study of Bashkortostan Republic: the effect of genetic structure of population on the load of monogenic hereditary diseases].

Here we present the data obtained during medical genetic examination of the population of five districts of Bashkortostan Republic (Burzyanskii, Baimakskii, Abzelilovskii, Salavatskii, and Arkhangelskii) populated with 168050 persons including 135748 Bashkirs. The study involved all the population of the districts including each ethnic group and was conducted according to standard protocol developed in the Laboratory of Genetic Epidemiology, Medical Genetic Research Center, Russian Academy of Medical Sciences. Based on segregation analysis, the values of prevalence rates of the major types of Mendelian pathology (AD, AR, and X- linked diseases) was calculated in five regions of the Republic as well as for Bashkirs alone.

[Integrated population genetic and medical genetic study of two raions of the Tver oblast].

An integrated medical genetic an population genetic study has been performed in two raions (administrative districts) of the Tver oblast (region) of Russia: the Udomlya raion located in the zone affected by the Kalininskaya Nuclear Power Plant and the Ostashkov raion, which served as a control district. No significant differences has been found with respect to the genetic parameters studied. The values of these parameters in the populations of the town of Udomlya, the town of Ostashkov, the Udomlya raion, and the Ostashkov raion, respectively, are the following: random inbreeding, 0.

[Prevalence and molecular-genetic typing of nonsyndromal neurosensory deafness in the Chuvash Republic].

Summarized genetic epidemiological characteristics of nonsyndromic sensorineural deafness in six raions of Chuvash Republic (Cheboksary, Kanash, Morgaushi, Tsivil'sk, Mariinski Posad, and Alatyr') are presented. A total of 264,419 individuals were examined. Forty-five families (60 affected individuals) with autosomal recessive (AR) and 8 families (18 affected individuals) with autosomal dominant (AD) nonsyndromic sensorineural deafness (NSSD) were identified.

[Genetic epidemiological study of populations in three regions of Chuvashia Republic].

Comprehensive population genetic and medical genetic studies were performed in three raions (districts) of Chuvashia. The population of these districts is more than 90% Chuvash. About 70% of the families that completed reproduction had two or three children.

The effects of thyroxine isomers on free-radical oxidation processes in subcellular fractions of rat cerebral cortex.

Measurements made by chemiluminescence (CL) were used to estimate effective D- and L-thyroxine concentrations and to study their effects on free-radical oxidation processes in the mitochondrial and synaptosomal fractions of rat cerebral cortex in vitro. These experiments showed that in a model system containing riboflavin, the antioxidant activity of D-T4 was 2.2 times greater than that of L-T4.

[Burden of hereditary diseases in residents of the Mari El Republic].

A summary of the medical genetic studies of the Marii El population is presented. A total of 276,900 people, 110,894 and 166,006 urban and rural inhabitants, respectively, were examined. Regarding the ethnic composition, the studied population was mostly Mari (61.

[A medico-genetic description of inhabitants of two regions of the Kransnodar Krai].

The spectrum and prevalence rate of hereditary pathology in Kanevskii and Bryukhovetskii raions (districts) of Krasnodar krai (territory) were analyzed. The total size of the studied population was 145,937. The prevalence rate of monogenic hereditary pathology was estimated.

[Diversity of hereditary pathology in the population of Marii El Republic and its differentiation with respect to gene frequencies for hereditary diseases].

The diversity of Mendelian hereditary pathology was studied in Marii El Republic. In total, 276,900 subjects, including 171,151 Maris and 88,714 Russians, living in seven raions (districts) were studied. Fifty-five autosomal dominant disease entities were found, with more than ten diseases having a frequency of 1:50,000 people or higher.

[Medico-genetic study of residents of Marii El republic: burden of hereditary diseases in four regions of the republic].

A medical genetic study of Orshanskii, Morkinskii, Sovetskii, and Semurskii raions (districts) of the Marii El Republic was performed. The total number of subjects examined was 115,743. Meadow Maris and Russians accounted for the most part of the populations of the districts studied.

[The analysis of grandaksin in cadaveric material].

Grandaxine was measured in expert cadaveric material (gastric wall, small intestine, and kidney) by thin layer and liquid chromatography and UV spectroscopy. Chromatographic measurement in a thin layer of the adsorbent was carried out on L 5/40 M plates in the following solvent systems: tholuene-acetone-25% ammonium hydroxide (50:50:1); ethyl acetate-methanol-25% ammonium hydroxide (17:2:1); chloroform-methanol (9:1); and chloroform-acetone (9:1). Analysis by high-pressure liquid chromatography was carried out by means of a Milichrome-4 chromatographer with a UV detector on the column packed with Separone C18 (5 mcm) using a mobile phase acetonitrile-0.

[Genetic structure and the load of hereditary diseases in five populations of Arkhangel'skaia region].

A population and medical genetic investigation was performed in a number of raions in the Arkhangel' skaya oblast. Random inbreeding coefficients were 0.000358 and 0.

[Monogenic hereditary diseases in Gorno-Mariĭskiĭ district of Mariĭ El republic].

The population of Gornomariiskii raion, Marii El Republic, primarily made up of mountain Marii, was subjected to medical genetic examination. The size of the entire population is 54853. Estimates of hereditary pathology in urban and rural populations of the raion were obtained.

[Hereditary spastic paraplegias: a comparative study of Russian populations].

15 families (27 patients) with hereditary spastic paraplegia (HSP) were found in the course of monogenic disorders investigation in 6 Russian populations. High HSP prevalence (7.21+1.

[Variety of hereditary diseases in the Adygei Autonomous Region].

This report is one of the series of communications dedicated to medico-genetical description of the Adyg population in the autonomous national district. The peculiarities have been considered of the forms of hereditary diseases both in the Adyg and Russian populations neighbouring each other in the Adyg national district territory. It was inferred that the minimal distance between Adyg and Russian populations consists in the level of aggregation and variety of autosomal-recessive forms which depended on subdivision and the level of inbreeding in the populations studied.