Wilson's disease: An old disease keeps its old secrets

European Journal of Gastroenterology and Hepatology

Volumn 19, Issue 2, 2007, Pages 97-99

  Durand, François ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

ATP7b gene; Cirrhosis; Copper; Wilson's disease

Indexed keywords

COPPER; WILSON DISEASE PROTEIN;

EXON; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HUMAN; HUNGARY; LIVER CIRRHOSIS; PRIORITY JOURNAL; SHORT SURVEY; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; MUTATION; PHENOTYPE;

EID: 33846820358     PISSN: 0954691X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MEG.0b013e32800fef34     Document Type: Short Survey

References (14)

1. 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; 5:327-337.
2. Gitlin JD. Wilson disease. Gastroenterology 2003; 125:1868-1877.
3. Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 2005; 41:668-670.
4. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5:344-350.
5. Riordan SM, Williams R. The Wilson's disease gene and phenotypic diversity. J Hepatol 2001; 34:165-171.
6. Folhoffer A. Novel mutations of ATP7B gene among 109 Hungarian patients with Wilson's disease. Eur J Gastroenterol Hepatol 2007; 19:105-111.
7. Caca K, Ferenci P, Kuhn HJ, Polli C, Willgerodt H, Kunath B, 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; 35:575-581.
8. 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.
9. Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, et al. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat 2004; 23:398.
10. Kumar S, Thapa BR, Kaur G, Prasad R. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype. Clin Genet 2005; 67:443-445.
11. 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.
12. Margarit E, Bach V, Gomez D, Bruguera M, Jara P, Queralt R, Ballesta F. 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; 68:61-68.
13. Durand F, Bernuau J, Giostra E, Mentha G, Shouval D, Degott C, et al. Wilson's disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine. Gut 2001; 48:849-852.
14. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23:139-142.