Whole genome analysis of a Wilson's disease family

Yaxin HU; Zhuo CHENG; Shuo CONG; Yongmei LIU; Baofang ZHANG; Yu LEI; Zhao YAN; Yiwei ZHANG; Xi PU; Lei YU; Mingliang CHENG

doi:10.3969/j.issn.1001-5256.2022.07.029

Volume 38 Issue 7

Jul. 2022

Turn off MathJax

Article Contents

Article Navigation > Journal of Clinical Hepatology > 2022 > 38(7): 1616-1619

PDF( 3028 KB)

Whole genome analysis of a Wilson's disease family

DOI: 10.3969/j.issn.1001-5256.2022.07.029

Yaxin HU^1a,
Zhuo CHENG²,
Shuo CONG^1b,
Yongmei LIU^1c,
Baofang ZHANG^1d,
Yu LEI^1a,
Zhao YAN³,
Yiwei ZHANG³,
Xi PU⁴,
Lei YU⁴,
Mingliang CHENG^{1d
,
,
,}

1a.
Prenatal Diagnostic Center, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
1b.
Department of Blood Transfusion, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
1c.
Clinical Laboratory, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
1d.
Department of Infectious Diseases, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
2.
Department of Gastroenterology and Hepatology, Peking University Third Hospital, Beijing 100191, China
3.
Graduate School of Guizhou Medical University, Guiyang 550004, China
4.
Guiyang Maternal and Child Health Care Hospital, Guiyang 550004, China

Research funding:

National Natural Science Foundation of China (81760116);

Project of Guizhou Provincial Administration of Traditional Chinese Medicine (QZYY-2018-016)

More Information

Corresponding author: CHENG Mingliang, ming-liangcheng@21cn.com(ORCID: 0000-0001-6962-4012)
Received Date: 2021-07-29
Accepted Date: 2021-11-10
Published Date: 2022-07-20

Abstract

- Hepatolenticular Degeneration,
- Genome-Wide Association Study,
- Pedigree,
- Mutation

FullText(HTML)

References(21)

References

[1]	TANZI RE, PETRUKHIN K, CHERNOV I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene[J]. Nat Genet, 1993, 5(4): 344-350. DOI: 10.1038/ng1293-344.
[2]	PETRUKHIN K, FISCHER SG, PIRASTU M, et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene[J]. Nat Genet, 1993, 5(4): 338-343. DOI: 10.1038/ng1293-338.
[3]	KAPLAN JH, MARYON EB. How mammalian cells acquire copper: an essential but potentially toxic metal[J]. Biophys J, 2016, 110(1): 7-13. DOI: 10.1016/j.bpj.2015.11.025.
[4]	YU L, HU YX, LEI Y, et al. A case of male's hepatolenticular degeneration associated with the wife's recurrent miscarriage[J]. J Prac Obste Gynecol, 2019, 35(6): 478-479. https://www.cnki.com.cn/Article/CJFDTOTAL-SFCZ201906028.htm 余蕾, 胡亚欣, 雷榆, 等. 男方肝豆状核变性与女方复发性流产1例[J]. 实用妇产科杂志, 2019, 35(6): 478-479. https://www.cnki.com.cn/Article/CJFDTOTAL-SFCZ201906028.htm
[5]	LESHANE ES, SHINDE U, WALKER JM, et al. Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B[J]. J Biol Chem, 2010, 285(9): 6327-6336. DOI: 10.1074/jbc.M109.074633.
[6]	LUTSENKO S, LESHANE ES, SHINDE U. Biochemical basis of regulation of human copper-transporting ATPases[J]. Arch Biochem Biophys, 2007, 463(2): 134-148. DOI: 10.1016/j.abb.2007.04.013.
[7]	JIA SY, ZHOU DH, OU XJ, et al. Progress in molecular mechanism of hepatolenticaular degeneration induced by ATP7B gene mutation[J]. Chin J Hepatol, 2020, 28(2): 188-192. DOI: 10.3760/cma.j.issn.1007-3418.2020.02.019. 贾思雨, 周冬虎, 欧晓娟, 等. ATP7B基因突变致肝豆状核变性的分子机制研究进展[J]. 中华肝脏病杂志, 2020, 28(2): 188-192. DOI: 10.3760/cma.j.issn.1007-3418.2020.02.019.
[8]	XIONG F, KUAI Y, XIE SY, et al. The necessity for hepatolenticular degeneration screening among children based on the different results of two cases[J/CD]. Chin J Liver Dis (Electrnic Version), 2021, 13(2): 69-72. DOI: 10.3969/j.issn.1674-7380.2021.02.012. 熊复, 蒯钰, 谢双宇, 等. 从2例患儿的不同结局探讨儿童肝豆状核变性筛查的必要性[J/CD]. 中国肝脏病杂志(电子版), 2021, 13(2): 69-72. DOI: 10.3969/j.issn.1674-7380.2021.02.012.
[9]	BANDMANN O, WEISS KH, KALER SG. Wilson's disease and other neurological copper disorders[J]. Lancet Neurol, 2015, 14(1): 103-113. DOI: 10.1016/S1474-4422(14)70190-5.
[10]	LI X, LU Z, LIN Y, et al. Clinical features and mutational analysis in 114 young children with Wilson disease from South China[J]. Am J Med Genet A, 2019, 179(8): 1451-1458. DOI: 10.1002/ajmg.a.61254.
[11]	ALA A, BORJIGIN J, ROCHWARGER A, et al. Wilson disease in septuagenarian siblings: Raising the bar for diagnosis[J]. Hepatology, 2005, 41(3): 668-670. DOI: 10.1002/hep.20601.
[12]	CHABIK G, LITWIN T, CZŁONKOWSKA A. Concordance rates of Wilson's disease phenotype among siblings[J]. J Inherit Metab Dis, 2014, 37(1): 131-135. DOI: 10.1007/s10545-013-9625-z.
[13]	YAHATA S, YUNG S, MANDAI M, et al. Phenotypes and chronic organ damage may be different among siblings with Wilson's disease[J]. J Clin Transl Hepatol, 2017, 5(1): 27-30. DOI: 10.14218/JCTH.2016.00064.
[14]	TAKESHITA Y, SHIMIZU N, YAMAGUCHI Y, et al. Two families with Wilson disease in which siblings showed different phenotypes[J]. J Hum Genet, 2002, 47(10): 543-547. DOI: 10.1007/s100380200082.
[15]	LI XH, LU Y, LING Y, et al. Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations[J]. BMC Med Genet, 2011, 12: 6. DOI: 10.1186/1471-2350-12-6.
[16]	ROY S, GANGULY K, PAL P, et al. Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease[J]. Ann Hum Genet, 2018, 82(2): 53-59. DOI: 10.1111/ahg.12223.
[17]	GROMADZKA G, RUDNICKA M, CHABIK G, et al. Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease[J]. J Hepatol, 2011, 55(4): 913-919. DOI: 10.1016/j.jhep.2011.01.030.
[18]	FEDOSEIENKO A, BARTUZI P, van de SLUIS B. Functional understanding of the versatile protein copper metabolism MURR1 domain 1 (COMMD1) in copper homeostasis[J]. Ann N Y Acad Sci, 2014, 1314: 6-14. DOI: 10.1111/nyas.12353.
[19]	YU CH, YANG N, BOTHE J, et al. The metal chaperone Atox1 regulates the activity of the human copper transporter ATP7B by modulating domain dynamics[J]. J Biol Chem, 2017, 292(44): 18169-18177. DOI: 10.1074/jbc.M117.811752.
[20]	LE A, SHIBATA NM, FRENCH SW, et al. Characterization of timed changes in hepatic copper concentrations, methionine metabolism, gene expression, and global DNA methylation in the Jackson toxic milk mouse model of Wilson disease[J]. Int J Mol Sci, 2014, 15(5): 8004-8023. DOI: 10.3390/ijms15058004.
[21]	GROMADZKA G, KRUSZYŃSKA M, WIERZBICKA D, et al. Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease[J]. Liver Int, 2015, 35(1): 215-222. DOI: 10.1111/liv.12493.

Relative Articles

Supplements(0)

Cited By

Proportional views

Proportional views

通讯作者: 陈斌, bchen63@163.com

1.
沈阳化工大学材料科学与工程学院沈阳 110142

Figures(3)

Get Citation

PDF

XML

Article Metrics

Article views (556) PDF downloads(61)

Whole genome analysis of a Wilson's disease family

DOI: 10.3969/j.issn.1001-5256.2022.07.029

References

Proportional views

Catalog

通讯作者: 陈斌, bchen63@163.com

Article Metrics

Proportional views

Related

Whole genome analysis of a Wilson's disease family

DOI: 10.3969/j.issn.1001-5256.2022.07.029

References

Proportional views

Catalog

通讯作者: 陈斌, bchen63@163.com

Article Metrics

Proportional views

Related

About Journal

Submission Guideline

Journal Online

Hepatobiliary College

Guidelines

Export File

Citation

Format

Content