Further delineation of the molecular pathology of Wilson disease in the Mediterranean population

Human Mutation

Volumn 12, Issue 2, 1998, Pages 89-94

  Loudianos, Georgios ^a   Dessì, Valeria ^b   Lovicu, Mario ^c   Angius, Andrea ^d   Nurchi, Annamaria ^b   Sturniolo, Giacomo Carlo ^e   Marcellini, Matilde ^f   Zancan, Lucia ^g   Bragetti, Patrizia ^h   Akar, Nejat ⁱ   Yagci, Rasit ^j   Vegnente, Angela ^k   Cao, Antonio ^a,b,c   Pirastu, Mario ^d  

^a Osp Regionale per le Microcitemie   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c Ist Ric Talassemie Anemie M   (Italy)

^d CNR   (Italy)

^e Gastroenterologia Padova   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY OF PADOVA   (Italy)

^h UNIVERSITY OF PERUGIA   (Italy)

ⁱ ANKARA UNIVERSITY   (Turkey)

^j Aegan University   (Turkey)

^k UNIVERSITY OF NAPLES FEDERICO II   (Italy)

more..

Author keywords

Mediterranean population; Molecular pathology; WD gene

Indexed keywords

CERULOPLASMIN;

ARTICLE; CERULOPLASMIN BLOOD LEVEL; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; HUMAN; LIVER DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECESSIVE GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ALTERNATIVE SPLICING; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; COPPER; DNA; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENES, RECESSIVE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; ITALY; MALE; MEDITERRANEAN REGION; MICROSATELLITE REPEATS; MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 7144256225     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO;2-G     Document Type: Article

References (19)

1. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet 5: 327-337.
2. Chelly J, Tummer Z, Tonnesen T, Petterson A, Iskikawa-Brush Y, Tommerup N, Horn N, et al. (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein Nature Genet 3.14-19.
3. Chuang LM, Wu HP, Jang MH, et al. (1996) High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwan ese families with Wilson disease. J Med Genet 33.521-523.
4. Danks DM (1989) 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, pp 1416-1422.
5. Dierick HA, Ambrosmi L, Spencer J, et al. (1995) Molecular structure of the Menkes disease gene (ATP7A). Genomics 28.462-469.
6. Figus AL, Augius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, et al. (1995) Molecular pathology and haplotype analysis of Wilson disease in mediterranean populations. Am J Hum Genet 57:1318-1324.
7. Loudianos G, Dessi V, Angius A, Lovicu M, Loi A, Deiana M, Akar N, et al. (1996) Wilson disease mutations associated with uncommon haplotypes in mediterranean patients. Hum Genet 98:640-642.
8. Mercer JFB, Livingston J, Hall B, et al. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet 3:20-25.
9. Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowitz LM, et al. (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nature Genet 5:338-343.
10. Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase. Genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3:1647-1656.
11. Scheinberg I, Sternlieb I (1984) Wilson disease. In Lloyd H, Smith J (eds). Major Problems in Internal Medicine.Vol 23. Philadelphia: WB Saunders.
12. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, et al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nature Genet 5 344-350.
13. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene: Spectrum of mutations and their consequences Nature Genet 9.210-217.
14. Thomas GR, Jensson O, Gudmundsson, Thorsteinsson L, Cox DW (1995) Wilson disease in Iceland. A clinical and genetic study Am J Hum Genet 56.1140-1146.
15. Treisman R, Orkim SH, Maniatis T (1983) Specific transcription and RNA splicing defects in five cloned β-thalassemia genes. Nature 302:591-596.
16. Turner Z, Vural B, Tonnesen T, et al. (1995) Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics 28:437-442.
17. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet 3:7-13.
18. Waldenstrom E, Lagerkvist A, Dahlman Th, Westermark K, Landegren U (1996) Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics 37:303-309.
19. Yamaguchi Y, Heiny ME, Gitlin JD (1993) Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 197:271-277.