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Wilson’s disease is severe autosomal recessive disease manifested primarily by hepatic, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. Clinical case description. The variant with uncertain clinical value of the ATP7B gene, c.2111C>T (p.T704I, chr13:52534294G>A (HG19)), was described in the family where parents are cousins. The eldest daughter out of four children died at the age of 11 due to liver cirrhosis. Wilson’s disease was genetically confirmed in two children (clinically — abdominal form). The younger son was diagnosed heterozygous state of the disease (without any clinical manifestations). The revealed variant of the ATP7B gene was previously identified in 3 more patients with Wilson’s disease, however, in a compound heterozygous state with known pathogenic genetic variant. Conclusion. c.2111C>T (p.T704I) variant of the ATP7B gene can be considered as probably pathogenic. Further research is required to evaluate its functional significance in Wilson’s disease pathogenesis.

BACKGROUND: Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with dominant nonsyndromic hearing impairments were described. Pathogenic variants in the CEACAM16 gene lead to the development of DFNA4B hearing loss. Currently, 8 pathogenic variants in this gene have been described. The objective of this study was to study the audiological and molecular genetic characteristics of a large family with CEACAM16-associated autosomal dominant nonsyndromic hearing loss. METHODS: A detailed anamnesis was collected, and a comprehensive audiological examination was performed for 21 family members. Genetic testing was performed, including whole-genome sequencing for the proband’s son and Sanger sequence analysis for the proband and for all available family members. RESULTS: In a large Russian family, including 5 generations, an autosomal dominant type of slowly progressing nonsyndromic late-onset hearing loss was observed. Eleven family members suffer from hearing impairment, which starts with tinnitus and threshold increase at high frequencies, since the age of 5-20 years. Hearing loss slowly progresses with age in each person and is similar to age-related hearing loss. We have detected the novel likely pathogenic variant с.419С>T (p.(Thr140Ile)) in exon 3 of the CEACAM16 gene, which segregates with late-onset nonsyndromic hearing loss in this family. CONCLUSION: The clinical data obtained in the examined family correspond with the phenotype in previously described cases. In general, the study widened the mutation spectrum of the gene, allowing to carry out medical genetic counseling and to answer the questions about the hearing impairment prognosis for future generations.

Readers will be presented with a series of articles on myocarditis in children, which are based on clinical guidelines developed by a group of authors on this topic. Myocarditis is an inflammatory myocardial disease characterized by a wide range of clinical manifestations — from minor to sudden cardiac death. Given the absence of pathognomonic symptoms, as well as the similarity of manifestations in the onset with common childhood diseases such as respiratory distress, gastrointestinal diseases, infectious pathology, specialists often overlook the likelihood of a diagnosis of “myocarditis”, which causes a late start of therapy and an adverse outcome. Considering that myocarditis accounts for 12% of cases of sudden cardiac death in adolescents and young adults, suspicion of this disease in differential diagnosis in children with nonspecific symptoms and disease progression may be the key to the formation of a proper treatment strategy. Despite significant advances in the study of myocarditis in both adults and children, there are still many unresolved issues. The purpose of this article is to highlight the current view of the etiology, pathogenesis, epidemiology and clinical features in children with various types of myocarditis in order to increase the knowledge of practitioners for better clinical management of patients with myocarditis.

Duchenne muscular dystrophy is one of the most common forms of childhood muscular dystrophies. Its incidence is 1 in 3.5–6 thousand newborn boys according to various sources. The disease is caused by the mutation in the DMD gene coding the dystrophin protein, it leads to the dystrophin absence or malfunction. The disease is characterized by proximal muscle weakness and gastrocnemius muscles pseudohypertrophy. In average, patients lose the ability to walk by themselves by the age of 11 and become nonambulatory. The authors have present modern epidemiological data and etiopathogenesis features of Duchenne muscular dystrophy, and have described clinical signs of different disease stages. The algorithm and key points of differential diagnosis are indicated. Special attention was given to the patients’ management: pathogenetic treatment and rehabilitation of pediatric patients.