Członkowska Anna, Gromadzka Grazyna, Chabik Grzegorz
Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Mov Disord. 2009 May 15;24(7):1066-9. doi: 10.1002/mds.22474.
Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of the copper-transporting protein adenosine triphosphatase 7B (ATP-ase 7B). The disease is caused by mutations in ATP7B gene. It seems that the type of mutation in ATP7B only to some degree determines phenotypic manifestation of WD. We examined two pairs of monozygotic twins discordant for WD phenotype. The first set of twins were ATP7B compound heterozygotes c.3207C>A (p.H1069Q)/c.1211_1212insA (p.N404Kfs). The index case developed severe liver failure followed by depressive symptoms, dysarthria, and tremor at the age of 36. Her sister remained presymptomatic at diagnosis at the age of 39. The second twins were ATP7B c.3207C.A (p.H1069Q) homozygotes. The index case presented with dysarthria and tremor at the age of 26. Her sister remained clinically presymptomatic at diagnosis at the age of 28. We concluded that the phenotypic characteristics of WD are possibly attributable to epigenetic/environmental factors.
威尔逊病（WD）是一种常染色体隐性疾病，其特征为铜转运蛋白三磷酸腺苷酶7B（ATP酶7B）功能紊乱。该疾病由ATP7B基因突变引起。ATP7B基因的突变类型似乎仅在一定程度上决定了WD的表型表现。我们研究了两对WD表型不一致的同卵双胞胎。第一对双胞胎是ATP7B复合杂合子c.3207C>A（p.H1069Q）/c.1211_1212insA（p.N404Kfs）。先证者在36岁时出现严重肝功能衰竭，随后出现抑郁症状、构音障碍和震颤。她的妹妹在39岁确诊时仍无症状。第二对双胞胎是ATP7B c.3207C.A（p.H1069Q）纯合子。先证者在26岁时出现构音障碍和震颤。她的妹妹在28岁确诊时临床上仍无症状。我们得出结论，WD的表型特征可能归因于表观遗传/环境因素。
