Standard

The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation. / Balashova, Mariya S.; Tuluzanovskaya, Inna G.; Glotov, Oleg S.; Glotov, Andrey S.; Barbitoff, Yury A.; Fedyakov, Mikhail A.; Alaverdian, Diana A.; Ivashchenko, Tatiana E.; Romanova, Olga V.; Sarana, Andrey M.; Scherbak, Sergey G.; Baranov, Vladislav S.; Filimonov, Marat I.; Skalny, Anatoly V.; Zhuchenko, Natalya A.; Ignatova, Tatiana M.; Asanov, Aliy Y.

In: Journal of Trace Elements in Medicine and Biology, Vol. 59, 126420, 05.2020.

Research output: Contribution to journal › Article › peer-review

Harvard

Balashova, MS, Tuluzanovskaya, IG, Glotov, OS, Glotov, AS, Barbitoff, YA, Fedyakov, MA, Alaverdian, DA, Ivashchenko, TE, Romanova, OV, Sarana, AM, Scherbak, SG, Baranov, VS, Filimonov, MI, Skalny, AV, Zhuchenko, NA, Ignatova, TM & Asanov, AY 2020, 'The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation', Journal of Trace Elements in Medicine and Biology, vol. 59, 126420. https://doi.org/10.1016/j.jtemb.2019.126420

APA

Balashova, M. S., Tuluzanovskaya, I. G., Glotov, O. S., Glotov, A. S., Barbitoff, Y. A., Fedyakov, M. A., Alaverdian, D. A., Ivashchenko, T. E., Romanova, O. V., Sarana, A. M., Scherbak, S. G., Baranov, V. S., Filimonov, M. I., Skalny, A. V., Zhuchenko, N. A., Ignatova, T. M., & Asanov, A. Y. (2020). The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation. Journal of Trace Elements in Medicine and Biology, 59, [126420]. https://doi.org/10.1016/j.jtemb.2019.126420

Vancouver

Balashova MS, Tuluzanovskaya IG, Glotov OS, Glotov AS, Barbitoff YA, Fedyakov MA et al. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation. Journal of Trace Elements in Medicine and Biology. 2020 May;59. 126420. https://doi.org/10.1016/j.jtemb.2019.126420

Author

Balashova, Mariya S. ; Tuluzanovskaya, Inna G. ; Glotov, Oleg S. ; Glotov, Andrey S. ; Barbitoff, Yury A. ; Fedyakov, Mikhail A. ; Alaverdian, Diana A. ; Ivashchenko, Tatiana E. ; Romanova, Olga V. ; Sarana, Andrey M. ; Scherbak, Sergey G. ; Baranov, Vladislav S. ; Filimonov, Marat I. ; Skalny, Anatoly V. ; Zhuchenko, Natalya A. ; Ignatova, Tatiana M. ; Asanov, Aliy Y. / The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation. In: Journal of Trace Elements in Medicine and Biology. 2020 ; Vol. 59.

BibTeX

@article{9b895e56630f453a815f345d307b81a5,
title = "The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation",
abstract = "Background. Wilson's disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contradictory. The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients. Materials and methods. 75 WDpatients were examined by next-generation sequencing (NGS). A targeted panel NimbleGen SeqCap EZ Choice: 151012_HG38_CysFib_EZ_HX3 (ROCHE)was designed for analysis of ATP7B gene and possible modifier genes. Retrospective assessment of a diagnostic WD score (Leipzig, 2001) was also performed. Results. 31 mutations in ATP7B gene were detected. Two most frequent mutations were c.3207C > A (51,85% of alleles) and c.3190 G > A (8,64% of alleles). Single rare mutations were detected in 29% of cases. In 96% cases mutations of both copies of the ATP7B were revealed. We also observed 3 novel potentially pathogenic variants which were not previously described (c.1870-8A > G, c.3655A > T (p.Ile1219Phe), c.3036dupC (p.Lys1013fs). For 25% of patients at the time of the manifestation the diagnosis WD could not be established using the earlier proposed diagnostic score. There was a remarkable delay in diagnosis for the majority of patients. Only 33% of patients WD was diagnosed in three months after the first symptoms, 29%patients - in 3–12 months, 30% – in 1–10 years, in 8% – more than 10 years. Generally, clinical appearance of WD may be rather variable at manifestation and genetic profiling at this step is the only way to confirm the presence of WD.",
keywords = "ATP7B, Degeneration, Hepatocerebellar, NGS, Targeted panel, Wilson's disease, Hepatolenticular Degeneration/diagnosis, Humans, Male, Gene Expression Profiling, Genetic Variation/genetics, Russia, Polymerase Chain Reaction, Adult, Female, High-Throughput Nucleotide Sequencing, Mutation, Copper-Transporting ATPases/genetics, POPULATION, GUIDELINES, COPPER, MOLECULAR PATHOLOGY, MUTATIONS, DIAGNOSIS, DELINEATION",
author = "Balashova, {Mariya S.} and Tuluzanovskaya, {Inna G.} and Glotov, {Oleg S.} and Glotov, {Andrey S.} and Barbitoff, {Yury A.} and Fedyakov, {Mikhail A.} and Alaverdian, {Diana A.} and Ivashchenko, {Tatiana E.} and Romanova, {Olga V.} and Sarana, {Andrey M.} and Scherbak, {Sergey G.} and Baranov, {Vladislav S.} and Filimonov, {Marat I.} and Skalny, {Anatoly V.} and Zhuchenko, {Natalya A.} and Ignatova, {Tatiana M.} and Asanov, {Aliy Y.}",
note = "Funding Information: The study was supported by the Russian Science Foundation (No. 14-50-00069 ). Publisher Copyright: {\textcopyright} 2019 Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2020",
month = may,
doi = "10.1016/j.jtemb.2019.126420",
language = "English",
volume = "59",
journal = "Journal of Trace Elements in Medicine and Biology",
issn = "0946-672X",
publisher = "Urban und Fischer Verlag GmbH und Co. KG",

}

RIS

TY - JOUR

T1 - The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation

AU - Balashova, Mariya S.

AU - Tuluzanovskaya, Inna G.

AU - Glotov, Oleg S.

AU - Glotov, Andrey S.

AU - Barbitoff, Yury A.

AU - Fedyakov, Mikhail A.

AU - Alaverdian, Diana A.

AU - Ivashchenko, Tatiana E.

AU - Romanova, Olga V.

AU - Sarana, Andrey M.

AU - Scherbak, Sergey G.

AU - Baranov, Vladislav S.

AU - Filimonov, Marat I.

AU - Skalny, Anatoly V.

AU - Zhuchenko, Natalya A.

AU - Ignatova, Tatiana M.

AU - Asanov, Aliy Y.

N1 - Funding Information: The study was supported by the Russian Science Foundation (No. 14-50-00069 ). Publisher Copyright: © 2019 Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2020/5

Y1 - 2020/5

N2 - Background. Wilson's disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contradictory. The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients. Materials and methods. 75 WDpatients were examined by next-generation sequencing (NGS). A targeted panel NimbleGen SeqCap EZ Choice: 151012_HG38_CysFib_EZ_HX3 (ROCHE)was designed for analysis of ATP7B gene and possible modifier genes. Retrospective assessment of a diagnostic WD score (Leipzig, 2001) was also performed. Results. 31 mutations in ATP7B gene were detected. Two most frequent mutations were c.3207C > A (51,85% of alleles) and c.3190 G > A (8,64% of alleles). Single rare mutations were detected in 29% of cases. In 96% cases mutations of both copies of the ATP7B were revealed. We also observed 3 novel potentially pathogenic variants which were not previously described (c.1870-8A > G, c.3655A > T (p.Ile1219Phe), c.3036dupC (p.Lys1013fs). For 25% of patients at the time of the manifestation the diagnosis WD could not be established using the earlier proposed diagnostic score. There was a remarkable delay in diagnosis for the majority of patients. Only 33% of patients WD was diagnosed in three months after the first symptoms, 29%patients - in 3–12 months, 30% – in 1–10 years, in 8% – more than 10 years. Generally, clinical appearance of WD may be rather variable at manifestation and genetic profiling at this step is the only way to confirm the presence of WD.

AB - Background. Wilson's disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contradictory. The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients. Materials and methods. 75 WDpatients were examined by next-generation sequencing (NGS). A targeted panel NimbleGen SeqCap EZ Choice: 151012_HG38_CysFib_EZ_HX3 (ROCHE)was designed for analysis of ATP7B gene and possible modifier genes. Retrospective assessment of a diagnostic WD score (Leipzig, 2001) was also performed. Results. 31 mutations in ATP7B gene were detected. Two most frequent mutations were c.3207C > A (51,85% of alleles) and c.3190 G > A (8,64% of alleles). Single rare mutations were detected in 29% of cases. In 96% cases mutations of both copies of the ATP7B were revealed. We also observed 3 novel potentially pathogenic variants which were not previously described (c.1870-8A > G, c.3655A > T (p.Ile1219Phe), c.3036dupC (p.Lys1013fs). For 25% of patients at the time of the manifestation the diagnosis WD could not be established using the earlier proposed diagnostic score. There was a remarkable delay in diagnosis for the majority of patients. Only 33% of patients WD was diagnosed in three months after the first symptoms, 29%patients - in 3–12 months, 30% – in 1–10 years, in 8% – more than 10 years. Generally, clinical appearance of WD may be rather variable at manifestation and genetic profiling at this step is the only way to confirm the presence of WD.

KW - ATP7B

KW - Degeneration

KW - Hepatocerebellar

KW - NGS

KW - Targeted panel

KW - Wilson's disease

KW - Hepatolenticular Degeneration/diagnosis

KW - Humans

KW - Male

KW - Gene Expression Profiling

KW - Genetic Variation/genetics

KW - Russia

KW - Polymerase Chain Reaction

KW - Adult

KW - Female

KW - High-Throughput Nucleotide Sequencing

KW - Mutation

KW - Copper-Transporting ATPases/genetics

KW - POPULATION

KW - GUIDELINES

KW - COPPER

KW - MOLECULAR PATHOLOGY

KW - MUTATIONS

KW - DIAGNOSIS

KW - DELINEATION

UR - http://www.scopus.com/inward/record.url?scp=85075449069&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/50555109-2d82-32ad-b48c-544db22a6790/

U2 - 10.1016/j.jtemb.2019.126420

DO - 10.1016/j.jtemb.2019.126420

M3 - Article

C2 - 31708252

AN - SCOPUS:85075449069

VL - 59

JO - Journal of Trace Elements in Medicine and Biology

JF - Journal of Trace Elements in Medicine and Biology

SN - 0946-672X

M1 - 126420

ER -

ID: 70417164