Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson’s disease (WD).

Background: Molecular genetic research becomes available for use in clinical practice. In Ukraine such molecular genetic studies of WD were not carried out.  Correlation “genotype – phenotype” in Wilson’s disease is difficult because of the large the number of mixed heterozygotes and relatively a small number of homozygotes.

Method: There were 128 patients with WD at our SI of Neurology, Psychiatry and Narcology NAMS of Ukraine.This is the largest sample of patients with WD in Ukraine and one of the largest in the World. Molecular genetic examination was performed in 20 patients with WD. Searched for three mutations in the ATP7B gene. The age of the patients was within 5-50 years, on average – 27.3 ± 5.6 years. The most common mutations in the European population, such as His1069Gln, Del C3402 and Gly1267Arg. Epidemiological studies regarding Wilson’s disease were not carried out in Ukraine.

Results: Family inherited analysis showed that in 32.9% patients manifestations of WD in varying degrees of severity were also available to their relatives. All family ties had the first line: brother – sister, brother – brother, sister – sister and father – daughter. Family screening allowed 4 patients to diagnose the earliest stage of the disease, in the so-called no symptomatic period. Analysis of molecular genetic examination 20 patients with WD show that mutations have been identified in 14 out of 20 patients. All 14 patients have a gene only the His1069Gln mutation. Two other mutations Del C3402 and Gly1667Arg were not found in none of our patients. Mutation His1069Gln was found in 7 patients in a homozygous state and in 7 patients in a compound-heterozygous state. In Ukraine Wilson disease is mainly caused by the His1069Gln mutation.

Conclusion: According to our data and literature data, no significant clinical and laboratory differences between patients with homozygous and compound heterozygous state. Given the large number of mutations in the ATP7B gene negative result of molecular genetic research for a specific group of mutations does not give reasons to exclude a reliably established diagnosis of WD by other methods. Once a patient is diagnosed with WD, a family screening should be performed to identify in first-line relatives or disease, or carriage of a recessive gene for early preventive and therapeutic measures.

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