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Liver and Biliary Tract

High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease

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Pages 1232-1237 | Received 17 Dec 2009, Accepted 09 May 2010, Published online: 21 May 2010

References

  • Bearn AG. Genetic analysis of 30 families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 1960;24:33–43.
  • Scheinberg IH, Sternlieb I. Wilson's disease: major problems in internal medicine. In: Smith LH Jr, editor. Vol. XXII. Philadelphia: Saunders; 1984.
  • Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;54:327–37.
  • Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993;9:210–7.
  • Adachi Y, Okayama Y, Miya H, Kamisako T. Presence of ATP-dependent copper transport in the hepatocyte canalicular membrane of the Long-Evans cinnamon rat, an animal model of Wilson disease. J Hepatol 1997;26:216–7.
  • Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease. Hum Mutat 2000;15:454–62.
  • Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clin Genet 2005;68:524–32.
  • Abdelghaffar TY, Elsayed SM, Elsobky E, Bettina B, Büttner J, Schmidt H. Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. J Hum Genet 2008;53:681–7.
  • Ishikawa T, Ishikawa N, Oota H, Yoshida T, Honma A, Kamimura T, A case of Wilson's disease with fulminant hepatic form survived with plasma exchange, glucagon–insulin (GI) therapy, prostaglandin E1, (PGE1) and hepatoglobin. Kanzo 1995;35:589–93.
  • Okada T, Morise T, Takeda Y, Mabuchi H. A new variant deletion of A copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure. J Gastroenterol 2000;35:278–83.
  • Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K. Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. Hum MutatSuppl 1998;1:S320–2.
  • Stapelbroek JM, Bolle CW, von Amstel JK, von Erpecum KJ, von Hottum J, von den Berg LH, The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol 2004;41:758–63.
  • Leggio L, Malandrino N, Loudianos G, Abenavoli L, Lepori MB, Capristo E, Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generation of a family: possible genotype–phenotype correlation with hepatic onset. Dig Dis Sci 2007;52:2570–5.
  • de Bie P, Muller P, Wijimenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and defects and disease phenotypes. J Med Genet 2007;44:673–88.
  • Guo Y, Nyasae L, Braiterman LT, Hubbard AL. NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells. Am J Physiol Gastrointest Liver Physiol 2005;289:G904–16.
  • Cater MA, La Fantanie S, Shield RM, Deal Y, Mercer JF. ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion. Gatroenterology 2006;130:493–506.
  • Forbes JR, Cox DW. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 2000;9:1927–35.
  • Huster D, Hoppert M, Lutsenko S, Zinke J, Lehmann C, Mossner J, Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. Gastroenterology 2003;124:335–45.

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