Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease

Human Mutation

Volumn 15, Issue 5, 2000, Pages 454-462

  Okada, Toshihide ^a,e   Shiono, Yuta ^b   Hayashi, Hisao ^b   Satoh, Hiro ^a   Sawada, Takeshi ^a   Suzuki, Ayako ^a   Takeda, Yasuo ^a   Yano, Motoyoshi ^c   Michitaka, Kojiro ^d   Onji, Morikazu ^d   Mabuchi, Hiroshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b HOKURIKU UNIVERSITY   (Japan)

^c NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KANAZAWA UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

ATP7B; Ceruloplasmin; Hepatolenticular degeneration; Heterozygote; WD; Wilson's disease

Indexed keywords

CERULOPLASMIN; COPPER;

ADOLESCENT; ADULT; ARTICLE; CERULOPLASMIN BLOOD LEVEL; COPPER BLOOD LEVEL; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; JAPAN; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CERULOPLASMIN; COPPER; DNA MUTATIONAL ANALYSIS; DNA TRANSPOSABLE ELEMENTS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; GEOGRAPHY; HEPATOLENTICULAR DEGENERATION; HUMANS; JAPAN; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION;

EID: 0034071017     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J     Document Type: Article

References (30)

1. Arima M, Sano I. 1968. Genetic studies of Wilson's disease in Japan. Birth Defects 4:54-59.
2. Bearn AG. 1960. Genetic analysis of 30 families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 24:33-43.
3. 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. Nat Genet 54: 327-337.
4. Chuang LM, Wu HP, Jang MH, Wang TR, Sue WC, Lin BJ, Cox DW. 1996. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet 33: 521-523.
5. Curtis D, Durkie M, Balac P, Sheard D, Goodeve A, Peake I, Quarrell O, Tanner S. 1999. A study of Wilson disease mutations in Britain. Hum Mutat 14:304-311.
6. Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, De Virgiliis S, Lilliu F, Farci AMG, Nurchi A, Giacchino R, Barabino A, Marazzi M, Zancan L, Greggio NA, Marcellini M, Solinas A, Deplano A, Barbera C, Devoto M, Ozsoylu S, Kocak N, Akar N, Karayalcin S, Mokini V, Cullufi P, Balestrieri A, Cao A, Pirastu M. 1995. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 57: 1318-1324.
7. Gibbs K, Walshe JM. 1979. A study of the ceruloplasmin concentration found in 75 patients with WD, their kinships and various control groups. Q J Med 48:447-463.
8. Ikeda K, Inoue H, Oka M, Kawakami B, Kawamura Y. 1995. A non-radioactive DNA sequencing method using bionylated dideoxynucleoside triphosphates and ΔTth DNA polymalase. DNA Research 2:225-227.
9. Kalinsky H, Funes A, Zeldin A, Pel-Or Y, Korostishevsky M, Gershoni-Bauruch R, Farrer LA, Bonne-Tamir B. 1998. Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat 11:145-151.
10. Kim EK, Yoo OJ, Song KY, Choi SY, Cho SW, Hahn SH. 1998. Identification of three novel mutations and a high frequency of Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 11:275-578.
11. Loudianos G, Dessi V, Lovicu M, Angius A, Nurchi A, Sturniolo GC, Marcellini M, Zancan L, Baragetti P, Akar N, Yagci R, Vegnente A, Cao A, Pirastu M. 1998. Further delineation of molecular pathology of Wilson disease in the Mediterranean population. Hum Mutat 12:89-94.
12. Mohabeer AJ, Hite AL, Martin WJ. 1991. Non-radioactive single strand conformation polymorphism (SSCP) using the Pharmacia 'Phast System'. Nucleic Acids Res 19:3151.
13. Nanji MS, Nguyen VTT, Kawasoe JH, Inui K, Endo F, Nakajima T, Anezaki T, Cox DW. 1997. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 60:1423-1429.
14. Orita M, Suzuki Y, Sekiya T, Hayashi K. 1989. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
15. 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 Molec Genet 3:1647-1656.
16. Saito T. 1981. An assessment of efficiency in potential screening in Wilson's disease. J Epideminol Community Health 35: 274-280.
17. Scheinberg IH, Sternlieb I. 1984. Wilson's disease: major problems in internal medicine. Vol. XXII. LH Smith Jr, ed. Philadelphia: Saunders.
18. Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Anneren G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TG, Petrukhin K. 1997. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 61:317-328.
19. Shimizu N, Kawase C, Nakazono H, Hemmi H, Shimatake H, Aoki T. 1995. A novel RNA splicing mutation in Japanese patients with Wilson disease. Biochem Biophys Res Commun 217:16-20.
20. Shimizu N, Nakazono H, Watanabe A, Yamaguchi Y, Hemmi H, Aoki T. 1997. Molecular diagnosis of Wilson's disease. Lancet 349:1811-1812.
21. Steindl P, Ferencl P, Dienes HP, Grimm G, Pabinger I, Madl C, Maier-Dobersberger T, Herneth A, Dragosics B, Meryn S, Knoflach P, Granditsch G, Gangl A. 1997. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 113:212-218.
22. Stemlieb I. 1990. Perspectives on Wilson's disease. Hepatology 12:1234-1239.
23. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, Devote M, Peppercorn J, Bush AI, Sternlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC. 1993. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-350.
24. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. 1995a. The Wilson disease gene: the spectrum of mutations and their consequences. Nat Genet 9:210-217.
25. Thomas GR, Roberts EA, Walshe JM, Cox DW. 1995b. Haplotypes and mutations in Wilson disease. Am J Hum Genet 56:1315-1319.
26. Waldenstrom E, Lagerkvisy A, Dahlman T, Westermark K, Landegren U. 1996. Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics 37:303-309.
27. Wilson SAK. 1912. Progressive lenticular degeneration. A familial nervous disease associated with cirrhosis of the liver. Brain 34:295-509.
28. Yamaguchi Y, Heiny ME, Gitlin JD. 1993. Isolation and characterization of a human liver c-DNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 197:271-277.
29. Yamaguchi A, Matsuura A, Arashima S, Kiuchi Y, Kikuchi K. 1998. Mutations of ATP7B in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. Hum Mutat S1:S320-S322.
30. Yarze JC, Martin P, Munoz SJ, Friedman LS. 1992. Wilson's disease: current status. Am J Med 92:643-654.