Clinical and molecular characterization of Wilson disease in Spanish patients

Hepatology Research

Volumn 37, Issue 1, 2007, Pages 18-26

  Brage, Antonio ^a   Tomé, Santiago ^d   García, Aranzazu ^c   Carracedo, Ángel ^b,e   Salas, Antonio ^b  

^a HOSPITAL JUAN CANALEJO   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c Cent Oncol Reg   (Spain)

^d HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^e Instituto de Salud Carlos III   (Spain)

Author keywords

ATP7B gene; Copper transport; Liver disease; Mutations; Spanish population; Wilson disease

Indexed keywords

AMINOTRANSFERASE; CHELATING AGENT; WILSON DISEASE PROTEIN;

ADOLESCENT; ADULT; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; EXON; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; LIVER DISEASE; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; PROTEIN POLYMORPHISM; SCHOOL CHILD; SEQUENCE ANALYSIS; SPAIN; WILSON DISEASE;

EID: 33947159316     PISSN: 13866346     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1872-034X.2007.00010.x     Document Type: Article

References (39)

1. Gitlin JD. Wilson disease. Gastroenterology 2003 ; 125: 1868-77.
2. Ala A, Schilsky M. Wilson disease: Pathophysiology, diagnosis, treatment, and screening. Clin Liver Dis 2004 ; 8: 787-805, viii.
3. Olivarez L, Caggana M, Pass KA, Ferguson P, Brewer GJ. Estimate of the frequency of Wilson's disease in the US Caucasian population: A mutation analysis approach. Ann Hum Genet 2001 ; 65: 459-63.
4. Schilsky ML. Wilson disease: Genetic basis of copper toxicity and natural history. Semin Liver Dis 1996 ; 16: 83-95.
5. 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 ; 5: 327-37.
6. Petrukhin K, Fischer SG, Pirastu M et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 1993 ; 5: 338-43.
7. 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.
8. Gollan JL, Gollan TJ. Wilson disease in 1998: Genetic, diagnostic and therapeutic aspects. J Hepatol 1998 ; 28 (Suppl 1): 28-36.
9. Sternlieb I. Perspectives on Wilson's disease. Hepatology 1990 ; 12: 1234-9.
10. Ferenci P, Caca K, Loudianos G et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003 ; 23: 139-42.
11. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: Spectrum of mutations and their consequences. Nat Genet 1995 ; 9: 210-17.
12. Margarit E, Bach V, Gómez D et al. Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet 2005 ; 68: 61-8.
13. Shah AB, Chernov I, Zhang HT et al. Petrukhin, 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.
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. Misrahi M, Hadchouel M, Spykerelle C. Novel mutations in the Wilson disease gene in European patients, 5th International meeting on trace elements in Medicine and Biology, 1996.
16. Caca K, Ferenci P, Kuhn HJ et al. High prevalence of the H1069Q mutation in East German patients with Wilson disease: Rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J Hepatol 2001 ; 35: 575-81.
17. Czlonkowska A, Rodo M, Gajda J, Ploos van Amstel HK, Juyn J, Houwen RH. Very high frequency of the His1069Gln mutation in Polish Wilson disease patients. J Neurol 1997 ; 244: 591-2.
18. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003 ; 31: 3568-71.
19. Fairbrother WG, Yeh RF, Sharp PA, Burge CB. Predictive identification of exonic splicing enhancers in human genes. Science 2002 ; 297: 1007-13.
20. Garcia-Villarreal L, Daniels S, Shaw SH et al. High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study. Hepatology 2000 ; 32: 1329-36.
21. Payne AS, Kelly EJ, Gitlin JD. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc Natl Acad Sci USA 1998 ; 95: 10854-9.
22. Ferenci P, Caca K, Berr F et al. Phenotypic-genotypic correlations of common mutations in European patients with Wilson disease. Hepatology 2000 ; 32: 415 A.
23. Ludwig J, Batts KP, Moyer TP, Baldus WP, Fairbanks VF. Liver biopsy diagnosis of homozygous hemochromatosis: A diagnostic algorithm. Mayo Clin Proc 1993 ; 68: 263-7.
24. Demirkiran M, Jankovic J, Lewis RA, Cox DW. Neurologic presentation of Wilson disease without Kayser-Fleischer rings. Neurology 1996 ; 46: 1040-3.
25. Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB. Diagnosis of Wilson's disease: An experience over three decades. Gut 2000 ; 46: 415-19.
26. Steindl P, Ferenci P, Dienes HP et al. Wilson's disease in patients presenting with liver disease: A diagnostic challenge. Gastroenterology 1997 ; 113: 212-18.
27. Oder W, Prayer L, Grimm G et al. Wilson's disease: Evidence of subgroups derived from clinical findings and brain lesions. Neurology 1993 ; 43: 120-4.
28. Forbes JR, Cox DW. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 2000 ; 9: 1927-35.
29. Tsivkovskii R, Efremov RG, Lutsenko S. The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B. J Biol Chem 2003 ; 278: 13302-8.
30. Salas A, Comas D, Lareu MV, Bertranpetit J, Carracedo A. mtDNA analysis of the Galician population: A genetic edge of European variation. Eur J Hum Genet 1998 ; 6: 365-75.
31. Salas A, Lareu V, Calafell F, Bertranpetit J, Carracedo A. mtDNA hypervariable region II (HVII) sequences in human evolution studies. Eur J Hum Genet 2000 ; 8: 964-74.
32. 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.
33. Evans J, Newman S, Sherlock S. Liver copper levels in intrahepatic cholestasis of childhood. Gastroenterology 1978 ; 75: 875-8.
34. Lefkowitch JH, Honig CL, King ME, Hagstrom JW. Hepatic copper overload and features of Indian childhood cirrhosis in an American sibship. N Engl J Med 1982 ; 307: 271-7.
35. Schilsky ML, Sternlieb I. Overcoming obstacles to the diagnosis of Wilson's disease. Gastroenterology 1997 ; 113: 350-3.
36. Takeshita Y, Shimizu N, Yamaguchi Y et al. Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet 2002 ; 47: 543-7.
37. Wernimont AK, Yatsunyk LA, Rosenzweig AC. Binding of copper (I) by the Wilson disease protein and its copper chaperone. J Biol Chem 2004 ; 279: 12269-76.
38. Wang T, Weinman SA. Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin. Gastroenterology 2004 ; 126: 1157-66.
39. van De Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 2002 ; 11: 165-73.