A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 10, 1997, Pages 3246-3250

  Wada, Norio ^a   Chiba, Hitoshi ^a   Shimizu, Chikara ^a   Kijima, Hiromichi ^a   Kubo, Mitsumasa ^b   Koike, Takao ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b HOKKAIDO UNIVERSITY OF EDUCATION   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN;

ADULT; ARTICLE; CASE REPORT; FAMILIAL DISEASE; FEMALE; GENE LOCATION; GENETIC LINKAGE; HUMAN; HYPERTHYROXINEMIA; JAPAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RACE DIFFERENCE; THYROXINE BLOOD LEVEL;

EID: 0030920437     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.82.10.4276     Document Type: Article

References (20)

1. Hennemann G, Docter R, Krenning EP, Bos G, Otten M, Visser TJ. 1979 Raised total thyroxine and free thyroxine index but normal free thyroxine. A serum abnormality due to inherited increased affinty of iodothyronines for serum binding prtein. Lancet. 1:639-642.
2. Lee WNP, Golden MP, Van Herle AJ, Lippe BM, Kaplan SA. 1979 Inherited abnormal thyroid hormone-binding protein causing selective increase of total serum thyroxine. J Clin Endocrinol Metab. 49:292-299.
3. DeCosimo DR, Fang S-L, Braverman LE. 1987 Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. Ann Intern Med. 107:780-781.
4. Arevalo G. 1991 Prevalence of familial dysalbuminemic hyperthroxinemia in serum samples received for thyroid testing. Clin Chem. 37:1430-1431.
5. Jensen IW, Faber J. 1988 Familial dysalbuminemic hyperthyroxinemia: a review. J R Soc Med. 81:34-37.
6. Weiss RE, Sunthornthepvarakul T, Angkeow P, et al. 1995 Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab. 80:116-121.
7. Peterson CE, Scottolini AG, Cody LR, Mandel M, Reimer N, Bhagavan NV. 1994 A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. J Med Genet. 31:355-359.
8. Sunthornthepvarakul T, Angkeow P, Weiss RE, Hayashi Y, Refetoff S. 1994 An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun. 202:781-787.
9. Scatchard G,. 1949 The attraction of proteins for small molecules and ions. Ann NY Acad Sci. 51:660-672.
10. Minghetti PP, Ruffner DE, Kuang W-J, et al. 1986 Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem. 216:6747-6757.
11. Weiss RE, Weinberg M, Refetoff S. 1993 Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. J Clin Invest. 91:2408-2415.
12. Lalloz MRA, Byfield PGH, Himsworth RL. 1985 A new and distinctive albumin variant with increased affinities for both triiodothyronines and causing hyperthyroxinemia. Clin Endocrinol (Oxf). 22:521-529.
13. Barlow JW, Csicsmann JM, White EL, Funder JW, Stockigt JR. 1982 Familial euthyroid thyroxine excess: characterization of intermediate affinity thyroxine binding to albumin. J Clin Endocrinol Metab. 55:244-250.
14. Barlow JW, Csicsmann JM, Meinhold H, Lim C-F, Stockigt JR. 1986 Familial dysalbuminemic hyperthyroxinemia: studies of albumin binding and implications for hormone action. Clin Endocrinol (Oxf). 24:39-47.
15. Lalloz MRA, Byfield PGH, Goel KM, Loudon MM, Thomson JA, Himsworth RL. 1987 Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family. J Clin Endocrinol Metab. 64:346-352.
16. Rajatanavin R, Fournier L, DeCosimo D, Abreau C, Braverman LE. 1982 Elevated serum free thyroxine by thyroxine analog radioimmunoassys in euthyroid patients with familial dysalbuminemic hyperthyroxinemia. Ann Intern Med. 97:865-866.
17. Kamikubo K, Sakata S, Nakamura S, Komaki T, Miura KJ. 1990 Thyroxine binding to human serum albumin immobilized on sepharose and effects of nonprotein albumin-binding plasma constituents. Protein Chem. 9:461-465.
18. Xiao MH, Carter DC. 1992 Atomic structure and chemistry of human serum albumin. Nature. 358:209-214.
19. Peterson CE, Ha C-E, Mandel M, Bhagavan NV. 1995 Expression of a human serum albumin variant with high affinity for thyroxine. Biochem Biophys Res Commun. 214:1121-1129.
20. Peterson CE, Ha C-E, Jameson DM, Bhagavan NV. 1996 Mutations m a specific human albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. J Biol Chem. 271:19110-19117.