Monozygotic female twins discordant for phenotype of Wilson's disease

Authors

  • Anna Członkowska MD, PhD,

    Corresponding author
    1. Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland
    2. Department of Experimental and Clinical Pharmacology, Medical University of Warsaw, Warsaw, Poland
    • Institute of Psychiatry and Neurology, Second Department of Neurology, Sobieskiego 9, 02 957 Warsaw, Poland===

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  • Grażyna Gromadzka PhD,

    1. Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland
    2. Department of Experimental and Clinical Pharmacology, Medical University of Warsaw, Warsaw, Poland
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  • Grzegorz Chabik MD

    1. Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland
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  • Potential conflict of interest: All financial involvement (e.g., employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents receiving or pending, royalties) with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the Submitted Publication Material are completely disclosed. We have no relevant financial interest in the Submitted Publication Material.

Abstract

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. © 2009 Movement Disorder Society

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