Clinical presentation and mutations in Danish patients with Wilson disease

European Journal of Human Genetics

Volumn 19, Issue 9, 2011, Pages 935-941

  Møller, Lisbeth Birk ^a   Horn, Nina ^a   Jeppesen, Tina Dysgaard ^b   Vissing, John ^b   Wibrand, Flemming ^c   Jennum, Poul ^b   Ott, Peter ^d  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c Rigshospitalet   (Denmark)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

age of onset; ATP7B; Denmark; genotype phenotype; mutations; Wilson disease

Indexed keywords

WILSON DISEASE PROTEIN;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DENMARK; DIAGNOSIS; DIAGNOSTIC TEST; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MODEL; ONSET AGE; PREDICTION; PREVALENCE; PRIORITY JOURNAL; URINALYSIS; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGE OF ONSET; CATION TRANSPORT PROTEINS; CHILD; FEMALE; GENETIC ASSOCIATION STUDIES; HEPATOLENTICULAR DEGENERATION; HUMANS; INCIDENCE; MALE; MUTATION RATE; PREVALENCE;

EID: 80052032308     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.80     Document Type: Article

References (41)

1. Roberts EA, Schilsky ML: Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47: 2089-2111. (Pubitemid 351945575)
2. Olsson C, Waldenstrom E, Westermark K, Landegre U, Syvanen AC: Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples. Eur J Hum Genet 2000; 8: 933-938. (Pubitemid 32094344)
3. Gitlin N: Wilson's disease: the scourge of copper. J Hepatol 1998; 28: 734-739.
4. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML: Wilson's disease. Lancet 2007; 369: 397-408.
5. Turnlund JR: Human whole-body copper metabolism. Am J Clin Nutr 1998; 67 (5 Suppl): 960S-964S. (Pubitemid 28198817)
6. Vanderwerf SM, Cooper MJ, Stetsenko IV, Lutsenko S: Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human coppertransporting ATPase. J Biol Chem 2001; 276: 36289-36294.
7. Møller LB, Bukrinsky JT, Molgaard A et al: Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. Hum Mutat 2005a; 26: 84-93. (Pubitemid 41040676)
8. Sternlieb I: Perspectives on Wilson's disease. Hepatology 1990; 12: 1234-1239.
9. Ferenci P, Caca K, Loudianos G et al: Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23: 139-142. (Pubitemid 37265785)
10. Nicastro E, Ranucci G, Vajro P, Vegnente A, Iorio R: Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology 2010; 52: 1948-1956.
11. Merle U, Weiss KH, Eisenbach C, Tuma S, Ferenci P, Stremmel W: Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol 2010; 10: 8.
12. Ferenci P: Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006; 120: 151-159. (Pubitemid 44204003)
13. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A: A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989; 17: 8390. (Pubitemid 19267198)
14. Møller LB, Ott P, Lund C, Horn N: Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations. Am J Med Genet A 2005b; 138: 340-343. (Pubitemid 41532950)
15. Guldberg P, Rey F, Zschocke J et al: A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998; 63: 71-79. (Pubitemid 30428320)
16. Isackson PJ, Bennett MJ, Lichter-Konecki U et al: CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab 2008; 94: 422-427.
17. Terada K, Schilsky ML, Miura N, Sugiyama T: ATP7B (WND) protein. Int J Biochem Cell Biol 1998; 30: 1063-1067.
18. Walshe JM, Yealland M: Wilson's disease: the problem of delayed diagnosis. J Neurol Neurosurg Psychiatry 1992; 55: 692-696.
19. Merle U, Schaefer M, Ferenci P, Stremmel W: Clinical presentation, diagnosis and longterm outcome of Wilson's disease: a cohort study. Gut 2007; 56: 115-120. (Pubitemid 46044897)
20. Steindl P, Ferenci P, Dienes HP et al: Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997; 113: 212-218. (Pubitemid 27281776)
21. Vrabelova S, Letocha O, Borsky M, Kozak L: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab 2005; 86: 277-285. (Pubitemid 41412185)
22. Merle U, Eisenbach C, Weiss KH, Tuma S, Stremmel W: Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease. J Hepatol 2009; 51: 925-930.
23. Gheorghe L, Popescu I, Iacob S et al: Wilson's Disease: a challenge of diagnosis. The 5-year experience of a tertiary centre. Rom J Gastroenterol 2004; 13: 179-185. (Pubitemid 39349683)
24. LaRusso NF, Summerskill WH, McCall JT: Abnormalities of chemical tests for copper metabolism in chronic active liver disease: differentiation from Wilson's disease. Gastroenterology 1976; 70: 653-655.
25. Frommer DJ: Urinary copper excretion and hepatic copper concentrations in liver disease. Digestion 1981; 21: 169-178. (Pubitemid 11183911)
26. Muller T, Koppikar S, Taylor RM et al: Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children. J Hepatol 2007; 47: 270-276. (Pubitemid 47021252)
27. Møller LB, Mogensen M, Horn N: Molecular diagnosis of Menkes disease: genotypephenotype correlation. Biochimie 2009; 91: 1273-1277.
28. Gromadzka G, Schmidt HH, Genschel J et al: p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord 2006; 21: 245-248.
29. Panagiotakaki E, Tzetis M, Manolaki N et al: Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet A 2004; 131: 168-173. (Pubitemid 39578349)
30. Loudianos G, Kostic V, Solinas P et al: Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. Genet Test 2003; 7: 107-112. (Pubitemid 36842198)
31. Brage A, Tome S, Garcia A, Carracedo A, Salas A: Clinical and molecular characterization of Wilson disease in Spanish patients. Hepatol Res 2007; 37: 18-26. (Pubitemid 46403837)
32. Curtis D, Durkie M, Balac M et al: A study of Wilson disease mutations in Britain. Hum Mutat 1999; 14: 304-311. (Pubitemid 29480314)
33. 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: 317-328. (Pubitemid 27382307)
34. Hermann W, Caca K, Eggers B et al: Genotype correlation with fine motor symptoms in patients with Wilson's disease. Eur Neurol 2002; 48: 97-101. (Pubitemid 34983851)
35. Hamza I, Schaefer M, Klomp LW, Gitlin JD: Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proc Natl Acad Sci USA 1999; 96: 13363-13368.
36. de Bie P, van de Sluis B, Burstein E et al: Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology 2007; 133: 1316-1326. (Pubitemid 47494457)
37. Gu YH, Kodama H, Du SL, Gu QJ, Sun HJ, Ushijima H: Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clin Genet 2003; 64: 479-484. (Pubitemid 37493117)
38. Gromadzka G, Schmidt HH, Genschel J et al: Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with early clinical manifestations of Wilson's disease. Clin Genet 2005; 68: 524-532. (Pubitemid 41748852)
39. Gupta A, Aikath D, Neogi R et al: Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet 2005; 118: 49-57.
40. Deguti MM, Genschel J, Cancado EL et al: Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat 2004; 23: 398.
41. Kaler SG, Tang J, Donsante A, Kaneski CR: Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. Ann Neurol 2009; 65: 108-113.