Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort

Liver International

Volumn 31, Issue 6, 2011, Pages 831-839

  Lee, Beom H ^a   Kim, Joo H ^a   Lee, Sun Y ^a   Jin, Hye Y ^a   Kim, Kwi Joo ^a   Lee, Jin Joo ^a   Park, Jung Young ^a   Kim, Gu Hwan ^a   Choi, Jin Ho ^a   Kim, Kyung M ^a   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

ATP7B; Domain; Genotype; Mutation; Phenotype; Wilson's disease

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; ATOX1 PROTEIN; CARRIER PROTEIN; CERULOPLASMIN; CHAPERONE; COMMD1 PROTEIN; COPPER; LEUCINE; LYSINE; PENICILLAMINE; PHENYLALANINE; SERINE; TRIENTINE; UNCLASSIFIED DRUG; VALINE; WILSON DISEASE PROTEIN; ZINC ACETATE;

ACUTE LIVER FAILURE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTHRALGIA; ARTICLE; CERULOPLASMIN BLOOD LEVEL; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FOLLOW UP; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC TRANSDUCTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HINGE REGION; HUMAN; HUMAN CELL; INFANT; LIVER CIRRHOSIS; LIVER DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; OUTCOME ASSESSMENT; PATIENT COMPLIANCE; PHENOTYPE; PHYLOGENY; PRESCHOOL CHILD; RNA SPLICING; SCHOOL CHILD; UNSPECIFIED SIDE EFFECT; URINARY EXCRETION; WILSON DISEASE;

EID: 79958030028     PISSN: 14783223     EISSN: 14783231     Source Type: Journal    
DOI: 10.1111/j.1478-3231.2011.02503.x     Document Type: Article

References (44)

1. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007; 369: 397-408.
2. Das SK, Ray K. Wilson's disease: an update. Nat Clin Pract Neurol 2006; 2: 482-93.
3. Kim GH, Yang JY, Park JY, et al. Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system. Genet Test 2008; 12: 395-9.
4. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut 2007; 56: 115-20.
5. Bruha R, Marecek Z, Pospisilova L, et al. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int 2010; 31: 83-91.
6. Wu ZY, Lin MT, Murong SX, Wang N. Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. Arch Neurol 2003; 60: 737-41.
7. Walshe JM. Diagnosis and treatment of presymptomatic Wilson's disease. Lancet 1988; 2: 435-7.
8. Sternlieb I, Scheinberg IH. Prevention of Wilson's disease in asymptomatic patients. N Engl J Med 1968; 278: 352-9.
9. 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.
10. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995; 9: 210-7.
11. 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.
12. Kim EK, Yoo OJ, Song KY, et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 1998; 11: 275-8.
13. Nanji MS, Nguyen VT, Kawasoe JH, et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997; 60: 1423-9.
14. Yoo HW. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. Genet Med 2002; 4 (Suppl.): 43S-8S.
15. Tsai CH, Tsai FJ, Wu JY, et al. Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Hum Mutat 1998; 12: 370-6.
16. Gu YH, Kodama H, Du SL, et al. 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: 479-84.
17. Park S, Park JY, Kim GH, et al. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum Mutat 2007; 28: 1108-13.
18. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23: 139-42.
19. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47: 2089-111.
20. Pugh RN, Murray-Lyon IM, Dawson JL, Pietroni MC, Williams R. Transection of the oesophagus for bleeding oesophageal varices. Br J Surg 1973; 60: 646-9.
21. 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.
22. Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS, Arunodaya GR. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007; 86: 112-21.
23. Leggio L, Addolorato G, Loudianos G, Abenavoli L, Gasbarrini G. Genotype-phenotype correlation of the Wilson disease ATP7B gene. Am J Med Genet A 2006; 140: 933.
24. Moller 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 2005; 138: 340-3.
25. Barada K, El-Atrache M, El H II, et al. Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease. J Clin Gastroenterol 2010; 44: 432-9.
26. Caprai S, Loudianos G, Massei F, et al. Direct diagnosis of Wilson disease by molecular genetics. J Pediatr 2006; 148: 138-40.
27. 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: 168-73.
28. Folhoffer A, Ferenci P, Csak T, et al. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease. Eur J Gastroenterol Hepatol 2007; 19: 105-11.
29. Loudianos G, Dessi V, Lovicu M, et al. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. J Med Genet 1999; 36: 833-6.
30. Owada M, Suzuki K, Fukushi M, Yamauchi K, Kitagawa T. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J Pediatr 2002; 140: 614-6.
31. 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.
32. Leggio L, Malandrino N, Loudianos G, et al. Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset. Dig Dis Sci 2007; 52: 2570-5.
33. 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: 1316-26.
34. Butler P, Mcintyre N, Mistry PK. Molecular diagnosis of Wilson disease. Mol Genet Metab 2001; 72: 223-30.
35. 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: 277-85.
36. 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: 39-86.
37. Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med 2004; 82: 629-34.
38. Wu ZY, Zhao GX, Chen WJ, et al. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med 2006; 84: 438-42.
39. Lovicu M, Dessi V, Lepori MB, et al. The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease. J Gastroenterol 2006; 41: 582-7.
40. Nanji MS, Cox DW. The copper chaperone Atox1 in canine copper toxicosis in Bedlington terriers. Genomics 1999; 62: 108-12.
41. Simon I, Schaefer M, Reichert J, Stremmel W. Analysis of the human Atox 1 homologue in Wilson patients. World J Gastroenterol 2008; 14: 2383-7.
42. Cullen LM, Prat L, Cox DW. Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. Clin Genet 2003; 64: 429-32.
43. 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.
44. Iida M, Terada K, Sambongi Y, et al. Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae. FEBS Lett 1998; 428: 281-5.