The paper describes the steps and problems of diagnosing congenital myopathy with early respiratory disorders. While differentially diagnosing, the authors consider congenital myopathies, in which early cardiac involvement is encountered. Since the course of the disease in an observed female patient differed from that of such nosological entities and appeared as not only muscle weakness, but also as early respiratory disorders, we could not identify what nosological entity the disease belonged to in view of its clinical presentation and the results of muscle histological examination and we decided to perform exome sequencing. Molecular genetic testing could find heterozygous mutations in the titin (TTN) gene. The findings are suggestive of congenital proximal myopathy with early respiratory failure, which is an allelic variant of Salih myopathy. This case is the first and so far only description of this disease in Russia.

This article describes 9 clinical cases of Aicardi–Goutières syndrome (AGS) in children admitted to the hospital of the Scientific and Practical Center of Medical Care for Children with Resistant Multifocal Epilepsy. Epilepsy, psychomotor retardation, and a loss of previously acquired skills were diagnosed during the investigation. Targeted exome sequencing in one child revealed a mutation in the RNASEH2B gene responsible for the development of this disease. AGS is an early-onset progressive encephalopathy with basal ganglia calcification, leukodystrophy, lymphocytosis, elevated interferon-alfa levels in the cerebrospinal fluid, and no evidence of viral infection. Noninfectious leukoencephalopathy concurrent with multifocal epilepsy in early childhood suggest that the syndrome is an inherited disease.

AIM:To study mutations and polymorphisms in the sodium channels genes, determining the development of idiopathic epilepsy (IE).MATERIAL AND METHODS:The study of SCN1A gene by direct Sanger sequencing in 53 patients and targeted resequencing of the regions of 34 genes in 40 patients with different clinical forms of IE was performed.RESULTS:Seven mutations (c.3022G>T, c.3637C>T, c.1144G>T, c.80G>C, c.1603C>T, c.2427G>A and c.1131A>C) were detected among 53 patients by direct Sanger sequencing of SCN1A gene. The mutations of SCN1A gene (2 - nonsense mutation, 5 - missense mutation) were identified in 7/40 (17.5%) patients with epilepsy using high-performance sequencing, Mutations in sodium channel genes encoding other subunits: SCN1B, SCN2A, SCN9A were identified in 6 patients.CONCLUSION:As epileptic encephalopathy is polygenic, it is important to conduct genetic testing of more genes (primarily sodium channel genes - SCN1B, SCN2A, SCN9A etc.) using special gene panels to find the molecular defect in DNA.

The aim of the research. To conduct a comparative analysis of prenatal diagnostics efficiency in field of chromosomal abnormalities. Material and methods. During pregnancy 1102 women consulted medical genetic service from 2012 up to 2014. Invasive diagnostics based on ultrasonic and biochemical markers was applied to 170 of patients. The results of the research. Invasive methods allowed to diagnose chromosomal pathology of 26 fetuses. The efficiency index of invasive prenatal diagnostics was 15.3 % which is in line with the international standard of the Fetal Medicine Foundation UK. Conclusion. The system of obligatory screening at early pregnancy stages is to be further developed. To increase efficiency of the prenatal diagnostic laboratories new methods are to be implemented, such as Chromosomal Micro Matrix Analysis and QFPC.

For the first time in the Republic of Dagestan (RD) a comprehensive clinical - epidemiological and molecular - genetic research of limb girdle forms of progressive muscular dystrophies (LGPMD) was conducted. LG forms of PMD: 2A type, 2B type and distal type Miyoshi were identified. The prevalence of LGPMD in RD populations was determined. LGPMD clinical polymorphism in patients living in the mountain, foothill and lowland regions of RD was studied and practical diagnostic algorithm for neurologists was made. Mutation which causes the development of LLPMD family forms was identified.