A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Volumn 191, Issue 3, 2000, Pages 119-125

  Daimon, Makoto ^a   Susa, Shinji ^a   Ohizumi, Toshihide ^a   Moriai, Satoko ^a   Kawanami, Toru ^a   Hirata, Akihiko ^a   Yamaguchi, Hiroshi ^a   Ohnuma, Hiroshi ^a   Igarashi, Masahiko ^a   Kato, Takeo ^a  

^a YAMAGATA UNIVERSITY   (Japan)

Author keywords

Ceruloplasmin; Gene mutation; HCD; HypoCPGM; Missense mutation

Indexed keywords

CERULOPLASMIN;

AGED; ALLELE; ARTICLE; BRAIN; CASE REPORT; ECHO PLANAR IMAGING; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; MALE; METABOLISM; METHODOLOGY; MISSENSE MUTATION; PATHOLOGY;

AGED; ALLELES; BRAIN; CERULOPLASMIN; ECHO-PLANAR IMAGING; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE;

EID: 0034218151     PISSN: 00408727     EISSN: None     Source Type: Journal    
DOI: 10.1620/tjem.191.119     Document Type: Article

References (17)

1. Bull, P.C., Thomas, G.R., Rommens, J.M., Forbes, J.R. & Cox, D.W. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet., 5, 327-337.
2. Chou, P.Y. & Fasman, G.D. (1978) Prediction of the secondary structure of proteins from their amino acid sequence. Adv. Enzymol., 47, 45-148.
3. Daimon, M., Kato, T., Kawanami, T., Tominaga, M., Igarashi, M., Yamatani, K. & Sasaki, H. (1995) A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus. Biochem. Biophys. Res. Commun., 217, 89-95.
4. Daimon, M., Moriai, S., Susa, S., Yamatani, K., Hosoya, T. & Kato, T. (1999) Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain. Neuroradiology, 41, 185-187.
5. Danks, D.M. (1995) Disorders of copper transport. In: The Metabolic and Molecular Bases of Inherited Disease, edited by C.R. Scriver, A.L. Beaudet, W.S. Sly & D. Valle, McGraw-Hill, Inc., New York, pp. 2211-2235.
6. Harris, Z.L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivary, R.T.A. & Gitlin, J.D. (1995) Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc. Natl. Acad. Sci. USA, 92, 2539-2543.
7. Harris, Z.L., Migas, M.C., Hughes, A.E., Logan, J.I. & Gitlin, J.D. (1996) Familial dementia due to a frameshift mutation in the caeruloplasmin gene. QJM, 89, 355-359.
8. Kingston, I.B., Kingston, B.L. & Putnam, F.W. (1977) Chemical evidence that proteolitic cleavage causes the heterogenity present in human ceruloplasmin preparations. Proc. Natl. Acad. Sci. USA, 74, 5377-5381.
9. Logan, J.I., Harveyson, K.B., Wisdom, G.B., Hughes, A.E. & Archbold, G.P.R. (1994) Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. QJM, 87, 663-670.
10. Miyajima, H., Kohno, S., Takahashi, Y., Yonekawa, O. & Kanno, T. (1999) Estimation of the gene frequency of aceruloplasminemia in Japan. Neurology, 53, 617-619.
11. Morita, H., Ikeda, S.-I., Yamamoto, K., Morita, S., Yoshida, K., Nomoto, S., Kato, M. & Yanagisawa, N. (1995) Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family. Ann. Neurol., 37, 646-656.
12. Okamoto, N., Wada, S., Oga, T., Kawabata, Y., Baba, Y., Habu, D., Takeda, Z. & Wada, Y. (1996) Hereditary ceruloplasmin deficiency with hemosiderosis. Hum. Genet., 97, 755-758.
13. Sambrook, J., Fritsch, E.F. & Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd ed., Cold Spring Harbor Press, Cold Spring Harbor, NY.
14. Samokyszyn, V.M., Miller, D.M., Reif, D.W. & Aust, S.D. (1989) Inhibition of superoxide and ferritin-dependent lipid peroxidation by ceruloplasmin. J. Biol. Chem., 264, 21-26.
15. Tanzi, R.E., Petrukhin, K., Chernov, J., Pellequer, J.L., Wasco, W., Ross, B., Romano, D.M., Parano, E., Pavone, L., Brzustowicz, L.M., Devoto, M., Peppercorn, J., Bush, A.I., Sternlieb, I., Pirastu, M., Gusella, J.F., Evgrafov, O., Penchaszadeh, G.K., Honig, B., Edelman, I.S., Soares, M.B., Scheinberg, I.H. & Gilliam, T.C. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nature Genet., 5, 344-350.
16. Yazaki, M., Yoshida, K., Nakamura, A., Furihata, K., Yonekawa, M., Okabe, T., Yamashita, N., Ohta, M. & Ikeda, S.-J. (1998) A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. J. Neurol. Sci., 156, 30-34.
17. Yoshida, K., Furihata, K., Takeda, S.I., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S.-I., Simizu, N. & Yanagisawa, N. (1995) A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nature Genet., 9, 267-272.