Genetic and clinical characteristic of Wilson-Konovalov disease in the Siberian region
https://doi.org/10.25557/2073-7998.2021.10.53-56
Abstract
Wilson’s disease is a rare autosomal recessive disorder characterized by abnormal accumulation of copper in the liver, brain, and other tissues. Wilson’s disease differential diagnosis is a difficult task due to the pronounced clinical heterogeneity. This emphasizes the importance of developing both new diagnostic methods and improving existing ones. As part of this study, we compared clinical diagnostics with the results of molecular genetic studies. We analyzed 42 patients with suspected Wilson’s disease. The biochemical parameters copper metabolism values were assessed (serum ceruloplasmin concentration, liver copper content, urinary copper excretion, alkaline phosphatase, total bilirubin, AST, ALT) according to the Leipzig quantitative scale. We used genomic DNA for molecular genetic analysis. Regions of interest in the genome was enriched using long-range PCR. The Nextera DNA Flex kit (Illumina, USA) was used to prepare DNA libraries. Sequencing was performed on an Illumina MiSeq device (Illumina, USA). As a result of the study, in 62.5% of cases in patients aimed at confirming the diagnosis (according to the Leipzig quantitative scale), we found mutations in the ATP7B gene, which confirms the value of a comprehensive diagnosis according to the Leipzig quantitative scale, taking into account the clinical symptoms and copper metabolism laboratory parameters.
About the Authors
I. Zh. Zhalsanova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
E. A. Fonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Sivcev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. E. Postrigan
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
T. A. Sakovskaya
Siberian State Medical University
Russian Federation
Russian Federation
A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
L. I. Minaycheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Agafonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
V. V. Petrova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
E. G. Ravzhaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
M. N. Filimonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
L. P. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
N. A. Skryabin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
O. Yu. Vasilyeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
O. A. Salyukova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
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Review
For citations:
Zhalsanova I.Zh., Fonova E.A., Sivcev A.A., Postrigan A.E., Sakovskaya T.A., Zarubin A.A., Minaycheva L.I., Agafonova A.A., Petrova V.V., Ravzhaeva E.G., Filimonova M.N., Nazarenko L.P., Seitova G.N., Skryabin N.A., Vasilyeva O.Yu., Salyukova O.A. Genetic and clinical characteristic of Wilson-Konovalov disease in the Siberian region. Medical Genetics. 2021;20(10):53-56. (In Russ.) https://doi.org/10.25557/2073-7998.2021.10.53-56
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