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 with MCD develop cellular and humoral immunodeficiency, bronchiectases and Hirschsprung disease. Such patients have an increased risk of developing malignant tumors and hypoplastic anemia. MCD is one of the rare monogenic disorders caused by mutations in the RMRP gene encoding a non-coding RNA instead of a protein. So far, 123 pathogenic RMRP variants have been described. The evidence of clinical genetic correlations in patients with different types and localization of gene mutations will facilitate further understanding of pathogenetic mechanisms of the disorder and enable to predict the spectrum and severity of clinical symptoms in individual patients.

Materials and methods. We present the first description of clinical genetic characteristics of two Russian patients with MCD caused by mutations in the RMRP gene, along with the comparison of our results with literature data. In both cases the diagnosis was confirmed by analyzing the RMRP gene sequence using the direct Sanger sequencing technique.

Results. Analysis of specific clinical signs observed during clinical examination of our patients in comparison with those reported in literature has shown the presence of typical skeletal and extraskeletal manifestations suggestive of MCD. In Russian patients we found the major mutation previously described in the Amish and Finnish populations, n.71A>G, present in compound heterozygous state, along with two other mutations: in one patient with an earlier described n.80G>A mutation, and in the other — a newly detected n.76C>T mutation. All detected mutations were mapped to a highly conserved region of the first domain that plays a major role in the functioning of the endoribonuclease complex.

Conclusions. Considering the small size of the RMRP gene and presence of specific signs of MCD, the most accurate and inexpensive method of molecular genetic analysis is the detection of mutations in the RMRP gene using direct automated Sanger sequencing. Timely diagnosis of MCD enables to choose the correct follow-up strategy for patients with this disorder.

Background. Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) also known as Bland — White — Garland syndrome is a rare congenital heart defect that affects 1 in every 300 000 newborns, thus comprising 0.22% of all congenital heart defects and 0.4–0.7% of critical congenital heart defects. In case of a more favorable disease course, symptoms typically appear between the 1st and 2nd months after birth. The ECG may show typical signs of ischemia, myocardial infarction, and left ventricular hypertrophy. The EchoCG is more informative as it enables the visualization of coronary artery orifices. Surgical correction is the only treatment method for this heart defect.

Case report. Patient G.S.V., one month of age, was admitted to the neonatal pathology unit. Based on the physical examination the patient’s condition was severe. The skin was pale with cyanosis of the nasolabial triangle. The respiration rate was accelerated (50–52 breaths per minute) with the indrawing of the intercostal spaces. The displacement of the apex beat 1 cm to the left of the left midclavicular line was revealed by palpation. The displacement of the left border of the relative cardiac dullness to the anterior axillary line was revealed by percussion. Upon auscultation, the first heart sound at the heart apex was decreased, and there was a blowing systolic murmur radiating to the left anterior axillary line. Upon examination the child was diagnosed with severe acute acquired non-rheumatic diffuse viral bacterial carditis. The lack of improvement in the child’s condition following the myocarditis treatment and the examination results were suggestive of the anomalous coronary artery. The child was transferred by emergency to the Penza Federal Center of Cardiovascular Surgery where the diagnosis was confirmed.

Conclusion. Despite being rare, this congenital heart defect may be diagnosed in clinical pediatric practice. A thorough record of complaints and medical history is an important step in its early diagnosis, and the presence of signs of heart failure requires additional examination. In case of suspected myocardial lesions, presence of high troponin levels and other markers of myocardial injury in the blood, ECG signs of myocardial ischemia and lack of improvement despite the treatment conducted, pathologic changes in the coronary arteries must be ruled out.

Background. Today excess body weight and obesity are considered an epidemic affecting millions of people around the world. Excess body weight in children increases the risk of development of obesity in adult age. Food preferences are formed in childhood and influenced by environmental, cultural, and genetic factors; the latter remaining unclear.

Objective. The study aimed at investigating the association of the rs5400 polymorphic locus of the SLC2A2 (GLUT2) gene and the rs4684677 polymorphic locus of the GHRL gene with excess body weight and preference for carbohydrates in preschool and primary school-aged children.

Methods. The study enrolled 92 patients aged between 3 and 11 years; 56 patients gave consent for the assessment of their food preferences. Genotyping of polymorphic loci in the SLC2A2 and GHRL genes was carried out for all patients. Results. All patients were divided into groups depending on their eating habits (the ratio of dietary carbohydrates), as well as the presence of excess body weight. The probability of consumption of excessive amounts of carbohydrates appeared to be higher for carriers of the G/A genotype in the SLC2A2 gene as compared to the G/G carriers (odds ratio: 9.3; 95 % confidence interval [1.8–47.3]; p = 0.004). No statistically significant differences in the distribution of genotypes of the GHRL gene have been found between the group with carbohydrate overconsumption and the control group (p > 0.05). Likewise, no statistically significant differences were found in the evaluation of association of the rs5400 polymorphism in the SLC2A2 gene and the rs4684677 polymorphism in the GHRL gene with excess body weight in children (p > 0.05).

Conclusion. There are genetic predictors of obesity in adult population. Thus, for example, the rs5400 polymorphism in the SLC2A2 gene and rs4684677 in the GHRL gene are the risk factors for excess body weight. Our study in a pediatric population did not reveal any association of the presence of polymorphic loci in the above-mentioned genes with obesity in children. The association of the G/A genotype of the SLC2A2 gene with excess carbohydrate consumption was revealed: the odds ratio for excess carbohydrate consumption was higher in the G/A carriers as compared to the G/G carriers: OR = 9.3; CI = [1.8–47.3]; p = 0.004. This finding is probably related to the fact that these genetic variants are not risk factors for obesity in childhood. These issues require further investigation within the framework of personalized medicine.