Molecular analysis of Wilson patients: Direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis

Journal of Trace Elements in Medicine and Biology

Volumn 26, Issue 2-3, 2012, Pages 97-101

  Bost, Muriel ^a,b,c   Piguet Lacroix, Guénaelle ^a   Parant, François ^b   Wilson, C M R ^c  

^a Centre de Biologie et Pathologie Est   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c HOSPICES CIVILS DE LYON   (France)

Author keywords

ATOX1; ATP7B; COMMD1; Gene analysis; Wilson disease

Indexed keywords

ADENINE; CYTOSINE; NUCLEOTIDE; THYMINE;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ARTICLE; ATOX1 GENE; ATP7B GENE; COMMD1 GENE; CONTROLLED STUDY; DNA POLYMORPHISM; ETHNIC GROUP; EXON; FRENCH LANGUAGE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POPULATION GENETICS; PRIORITY JOURNAL; WILSON DISEASE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; CATION TRANSPORT PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MODELS, BIOLOGICAL; MOLECULAR CHAPERONES; YOUNG ADULT;

EID: 84862556192     PISSN: 0946672X     EISSN: 18783252     Source Type: Journal    
DOI: 10.1016/j.jtemb.2012.04.024     Document Type: Article

References (27)

1. Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., Cox D.W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5(4):327-337.
2. Tanzi R.E., Petrukhin K., Chernov I., Pellequier J.L., 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(4):344-350.
3. Cox D.W., Prat L., Walshe J.M., Heathcote J., Gaffney D. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. Hum Mut 2005, 26:280-287.
4. Simon I., Schaefer M., Reichert J., Stremmel W. Analysis of the human Atox1 homologue in Wilson patients. World J Gastroenterol 2008, 14(15):2383-2387.
5. Gupta A., Chattopadhyay I., Mukherjee S., Sengupta M., Das S.K., ray K. A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson disease. Behavioral and Brain Functions 2010, 6:33-37.
6. Tao T.Y., Liu F., Klomp L., Wijmenga C., Gitlin J.D. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 2003, 278:41593-41596.
7. 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, 82:629-634.
8. Deguti M.M., Genschel J. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mut 2004, 23(4):398-406.
9. Loudianos G., Dessi V., Lovicu M. Haplotype and mutation analysis in Greek patients with Wilson disease. Eur J Hum Gen 1998, 6:487-491.
10. Lepori M.B., Lovicu M., Dessi V., Zappu Incollu S., Zancan L., et al. Twenty four novel mutations in Wilson disease patients of predominantly Italian origin. Gen Test 2007, 11(3):329-333.
11. Curtis D., Durkie M., Baka P., Sheard D., Goodeve A., Peake I. A study of Wilson disease mutations in Britain. Hum Mut 1999, 14(4):304-311.
12. Cox D.W., Prat L. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. Hum Mut 2005, 26(3):280.
13. Figus A., Angius A., Loudianos G., Bertini C., Dessi V., Loi A., et al. Molecular pathology and haplotypes analysis in Mediterranean populations. Am J Hum Genet 1995, 57:1318-1324.
14. Loudianos G., Dessi V., Lovicu M. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. J Med Genet 1999, 36:833-836.
15. Okada T., Shiono Y. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mut 2000, 15:454-462.
16. Loudianos G., Lovicu M. Delination of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. Genetics Mutations 2000, 4:399-402.
17. Kim E.K., Yoo O.J., Song K.Y. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mut 1998, 11:275-278.
18. Loudianos G., Kostic V. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. Genet Test 2003, 7(2):107-112.
19. Gu Y.H., Kodama H. Mutation spectrum and polymorphism 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.
20. Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., 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.
21. Vrabelova S., Letocha O. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in 227 patients with Wilson disease. Mol Genet Metabol 2005, 86:277-285.
22. Loudianos G., Lovicu M. Abnormal mRNA splicing resulting from consensus sequence splicing mutation of ATP7B. Hum Mut 2002, 20:260-266.
23. Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., Cox D.W. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995, 9:210-217.
24. Loudianos G., Dessi V., Angius A. Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Hum Genet 2002, 98:640-642.
25. Shimizu N., Nakazono H. Molecular analysis and diagnosis in Japanese patients with Wilson's disease. Ped Int 1999, 41:409-413.
26. Folhoffer A., Ferenci P., Csak T., Horvath A., Hegedus D., Firneisz G., et al. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson disease. Eur J Gastrenterol Hepatol 2007, 19(2):105-111.
27. Genschel J., Czlonkowska Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease. Hum Mut 2001, 17(2):56.