Monozygotic Female Twins Discordant for Phenotype of Wilson's Disease
Monozygotic Female Twins Discordant for Phenotype of Wilson's Disease
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DOI：
10.1002/mds.22474
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发表时间：
2009-05-15
影响因子：
8.6
通讯作者：
Chabik, Grzegorz
中科院分区：
文献类型：
--
作者：
Czlonkowska, Anna;Gromadzka, Grazyna;Chabik, Grzegorz
肝豆状核变性(WD)是一种常染色体隐性遗传病，其特征是铜转运蛋白三磷酸腺苷酶713(ATPase 7B)功能紊乱。这种疾病是由ATP7B基因突变引起的。似乎ATP7B突变类型在一定程度上决定了WD的表型表现。我们检测了两对WD表型不一致的同卵双胞胎。第一对双生子为ATP7B复合杂合子c.3207C>；A(p.H1069Q)/c.1211_1212insA(p.N404Kfs)。指征病例在36岁时出现严重的肝功能衰竭，随后出现抑郁症状、构音障碍和震颤。她的姐姐在39岁时被诊断为症状前症状。第二对为ATP7B c.3207C.A(p.H1069Q)纯合子。指征病例在26岁时出现构音障碍和震颤。她的妹妹在28岁时被诊断为临床症状前症状。我们认为WD的表型特征可能与表观遗传/环境因素有关。(C)2009年流动无序协会
Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of the copper-transporting protein adenosine triphosphatase 713 (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. (C) 2009 Movement Disorder Society