The method of screening for frequent insertion/deletion in ATP7B gene
https://doi.org/ 10.25557/2073-7998.2019.01.8-12
Abstract
Wilson-Konovalov’s disease (WD) is a rare inborn disease characterized by excess accumulation of copper in parenchymal tissues. WD is caused by pathogenic variants in the ATP7B gene, such as missense variants, insertion/deletion. The results of study of allelic frequencies of insertion/deletion in ATP7B gene in Russian WD-patients are presented in this research. The mutations: c.1770insT, c.2304insC, c.2532delA, c.3036insC, c.3402delC, c.3627_3642del4, c.3649_3654del6, c.[3942delCA;3947delG] were included to the screening system for frequent ins/ del in ATP7B gene.
About the Authors
G. M. Bayazutdinova
Reseach Centre for Medical Genetics
Russian Federation
Russian Federation
O. A. Schagina
Reseach Centre for Medical Genetics
Russian Federation
Russian Federation
A. S. Karunas
Institute of Biochemistry and Genetics, Ufa Scientific Center of the Russian Academy of Science
Russian Federation
Russian Federation
A. V. Polyakov
Reseach Centre for Medical Genetics
Russian Federation
Russian Federation
E. K. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Scientific Center of the Russian Academy of Science
Russian Federation
Russian Federation
References
1. Chen C, Shen B, Xiao JJ et al. Currently Clinical Views on Genetics of Wilson’s Disease. Chin Med J 2015;128-13.
2. Асанов А.Ю., Соколов А.А., Волгина С.Я. и др. Федеральные клинические рекомендации по диагностике и лечению болезни Вильсона-Коновалова. 2015.
3. Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet. 2006;Vol. 120:151-159.
4. Баязутдинова Г.М., Щагина О.А., Поляков А.В. Мутация с.3207C>A гена ATP7B - наиболее частая причина гепатолентикулярной дегенерации в России: частота и причина распро- странения. Медицинская генетика, 2018; 4: 25-30.
5. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993; 5:344-350.
6. http://www.hgmd.cf.ac.uk.
7. Firneisz G, Lakatos PL, Szalay F. et al. Common mutations of AT- P7B in Wilson disease patientsfron Hungary. Am J Med Genet. 2002;108(1):23-28.
8. Chang IJ, Hahn SH. The genetics of Wilson disease. Handb Clin Neurol. 2017; 142:19-34.
9. Behari M, Pardasani V. Genetics of Wilsons disease. Parkinsonism Relat Disord. 2010;16:639-44.
10. Карунас А.С., Магжанова А.Р., Магжанов Р.В. и др. Молекулярно-генетическое исследование болезни Вильсона в республике Башкортостан. Медицинская генетика, 2009; 8(8):41-48.
11. http://www.wilsondisease.med.ualberta.ca/database.asp
12. https://databases.lovd.nl/shared/genes/ATP7B
13. Thomas GR, Roberts EA, Walshe JM, et al. Haplotypes and muta- tions in Wilson disease. Am J Hum Genet. 1995; 56:1315-1319.
14. Figus A, Angius A, Loudianos G, et al. Molecular pathology and hap- lotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet. 1995;57:1318-1324.
15. Tomic A, Dobricic V, Novakovic I, et al. Mutational analysis of AT- P7B gene and the genotype-phenotype correlation in patients with Wilson’s disease in Serbia. Vojnosanit Pregl. 2013; 70(5):457-462.
16. Thomas GR, Forbes GR, Roberts EA, et al. The Wilson disease: spec- trum of mutations and their consequences. Nat Genet. 1995; 9:210-217.
17. Folhoffer A, Ferenci P, Csak T et al. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson’s disease. Europe- an journal of gastroenterology & hepatology. 2007:Vol.19:105-111.
18. Deguti MM, Genschel J, Cancado EL et al. Wilson disease: novel mutation in the ATP7B gene and clinical correlation in Brazilian pa- tients. Hum Mutat. 2004;23(4):398.
Review
For citations:
Bayazutdinova G.M., Schagina O.A., Karunas A.S., Polyakov A.V., Khusnutdinova E.K. The method of screening for frequent insertion/deletion in ATP7B gene. Medical Genetics. 2019;18(1):8-12. (In Russ.) https://doi.org/ 10.25557/2073-7998.2019.01.8-12
Views:
803
Email this article 