A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure

Journal of Gastroenterology

Volumn 35, Issue 4, 2000, Pages 278-283

  Okada, Toshihide ^a   Morise, Toshio ^a   Takeda, Yasuo ^a   Mabuchi, Hiroshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

Author keywords

Hepatolenticular degeneration; Mutation of ATP7B gene

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CERULOPLASMIN; COPPER; PENICILLAMINE; ZINC SULFATE;

ADOLESCENT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOPSY; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CLINICAL FEATURE; COPPER BLOOD LEVEL; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE ISOLATION; GENE LOCATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER FAILURE; PEDIGREE; PLASMAPHERESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIBLING; WILSON DISEASE;

EID: 0034058587     PISSN: 09441174     EISSN: None     Source Type: Journal    
DOI: 10.1007/s005350050346     Document Type: Article

References (26)

1. Bearn AG. Genetic analysis of 30 families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 1960;24:33-43.
2. Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith LH Jr, editor. Major problems in internal medicine, Vol. XXII. Philadelphia: Saunders, 1984.
3. Wilson SAK. Progressive lenticular degeneration. A familial nervous disease associated with cirrhosis of the liver. Brain 1912;34:295-509.
4. Arima M, Sano I. Genetic studies of Wilson's disease in Japan. Birth Defects 1968;4:54-9.
5. Saito T. An assessment of efficiency in potential screening in Wilson's disease. J Epidemiol Commun Health 1981;35:274-80.
6. Yarze JC, Martin P, Munoz SJ, et al. Wilson's disease: current status. Am J Med 1992;92:643-54.
7. Dobyns WB, Goldstein NP, Gordon H. Clinical spectrum of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc 1979;54:35-42.
8. McCullough AJ, Fleming CR, Thistle JL, et al. Diagnosis of Wilson's disease presenting as fulminant hepatitis. Gastroenterology 1983;84:161-7.
9. Walshe JM, Dixon AK. Dangers of non-compliance in Wilson's disease. Lancet 1986;I:845-7.
10. Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;54:327-37.
11. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993;5:344-50.
12. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver c-DNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993;197:271-7.
13. Thomas GR, Forbes JR, Roberts EA, et al. The Wilson disease gene: the spectrum of mutations and their consequences. Nat Genet 1995;9:210-7.
14. Figus A, Angius A, Loudianos G, et al. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 1995;57:1318-24.
15. Chuang LM, Wu HP, Jang MH, et al. High frequency of two mutations in codon 778 in exon 8 of the A TP7B gene in Taiwanese families with Wilson disease. J Med Genet 1996;33:521-3.
16. Shimizu N, Kawase C, Nakazono H, et al. A novel RNA splicing mutation in Japanese patients with Wilson disease. Biochem Biophys Res Commun 1995;217:16-20.
17. Nanji MS, Nguyen VIT, Kawasoe JH, et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997;60:1423-9.
18. Shimizu N, Nakazono H, Watanabe A, et al. Molecular diagnosis of Wilson's disease. Lancet 1997;349:1811-2.
19. Shah AB, Chernov I, Zhang HT, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 1997;61:317-28.
20. Petrukhin K, Lutsenko S, Chernov I, et al. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994;3:1647-56.
21. Ikeda K, Inoue H, Oka M, et al. A non-radioactive DNA sequencing method using biotinylated dideoxynucleoside triphosphates and ΔTth DNA polymalase. DNA Res 1995;2:225-7.
22. Buffone GJ, Brett EM, Lewis SA, et al. Limitations of immunochemical measurement of ceruloplasmin. Clin Chem 1979; 25:749-51.
23. Hartleb M, Zahorska-Markiewicz B, Ciesielski A. Wilson's disease presenting in sisters as fulminant hepatitis with hemolytic episodes. Am J Gastroenterol 1987;82:549-51.
24. Tu JB. A genetic, biochemical and clinical study of Wilson's disease among Chinese in Taiwan. Acta Paediatr Sin 1963;4:81-104.
25. Engelbrecht V, Schlaug G, Hefter H, et al. MRI of the brain in Wilson disease: T2 signal loss under therapy. J Compul Assist Tomogr 1995;19:635-8.
26. Gibbs K, Walshe JM. A study of the ceruloplasmin concentration found in 75 patients with Wilson's disease, their kinships and various control groups. QJ Med 1979;48:447-63.