Mutation analysis in patients of Mediterranean descent with Wilson disease: Identification of 19 novel mutations

Journal of Medical Genetics

Volumn 36, Issue 11, 1999, Pages 833-836

  Loudianos, Georgios ^a   Dessi, Valeria ^b   Lovicu, Mario ^c   Angius, Andrea ^c   Altuntas, Buket ^d   Giacchino, Raffaella ^e   Marazzi, Maria ^e   Marcellini, Matilde ^f   Sartorelli, Maria Rita ^f   Sturniolo, Giacomo Carlo ^g   Kocak, Nurten ^h   Yuce, Aysel ^h   Akar, Nejat ⁱ   Pirastu, Mario ^c   Cao, Antonio ^a,b,c  

^a Osp Regionale per le Microcitemie   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c CNR   (Italy)

^d GAZI UNIVERSITY   (Turkey)

^e G GASLINI INSTITUTE   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g Div Gastroenterologia   (Italy)

^h HACETTEPE UNIVERSITY   (Turkey)

ⁱ ANKARA UNIVERSITY   (Turkey)

Author keywords

ATP7B; Compound heterozygote; Mutation; Wilson disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE;

ARTICLE; ETHNIC GROUP; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SOUTHERN EUROPE; STRUCTURE ACTIVITY RELATION; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; DNA MUTATIONAL ANALYSIS; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HUMANS; MEDITERRANEAN REGION; MUTATION;

EID: 0032710179     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Danks DM. Disorders of copper transport. In: Scriver CR. Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited diseases, 6th ed. Vol 1. New York: McGraw-Hill, 1989:1416-22.
2. Scheinberg IH, Sternlieb I. Wilson disease. In: Lloyd H, Smith J, eds. Major problems in internal medicine. Philadelphia: Saunders, 1984:23.
3. 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.
4. 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.
5. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993;197:271-7.
6. Chelly J, Tummer Z, Tonnesen T, et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993;3:14-19.
7. Mercer JFB, Livingston J, Hall B, et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 19933;20-5.
8. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 1993;3:7-13.
9. Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase. Genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994;3:1647-56.
10. Turner Z, Vural B, Tonnesen T, Chelly J, Monaco AP, Horn N. Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics 1995;28:437-42.
11. Dierick HA, Ambrosini L, Spencer J, Glover TW, Mercer JFB. Molecular structure of the Menkes disease gene (ATP7A). Genomics 1995;28:462-9.
12. 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.
13. Thomas GR, Jensson O, Gudmundsson G, Thorsteinsson L, Cox DW. Wilson disease in Iceland: a clinical and genetic study. Am J Hum Genet 1995;56:1140-46.
14. Figus AL, 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. Loudianos G, Dessi V, Angius A, et al. Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Hum Genet 1996;98:640-2.
16. Chuang LM, Wu HP, Jang MH, et al. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet 1996;33:521-3.
17. Waldenstrom E, Lagerkvist A, Dahlman T, Westermark K, Landegren U. Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics 1996;37:303-9.
18. Nanji MS, Nguyen VTT, Kawasoe JH, et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997;98:1423-9.
19. 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.
20. Kalinsky H, Funes A, Zeldin A, et al. Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat 1998;11:145-51.
21. 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 Mut 1998;11:275-8.
22. Loudianos G, Dessi V, Lovicu M, et al. Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Hum Mutat 1998;12:89-94.
23. Loudianos G, Dessi V, Lovicu M, et al. Haplotype and mutation analysis in Greek patients with Wilson disease. Eur J Hum Genet 1998;6:487-91.
24. Lutsenko S, Kaplan JH. Organization of P-type ATPases: significance of structural diversity. Biochemistry 1995;34:15607-13.
25. Andersen JP, Vilsen B. Structure-function relationships of cation translocation by Ca(2+)-and Na+, K(+)-ATPases studied by site-directed mutagenesis, FEBS Lett 1995;359:101-6.