Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 8, 1998, Pages 2940-2943

  Fujiwara, Hirokazu ^a   Tatsumi, Ke Ita ^a   Miki, Kazunori ^a   Harada, Tokuzo ^a   Okada, Shintaro ^a   Nose, Osamu ^b   Kodama, Soichi ^c   Amino, Nobuyuki ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b Nose Clinic   (Japan)

^c HIMEJI RED CROSS HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; DNA; GUANINE NUCLEOTIDE BINDING PROTEIN; IODIDE; LIOTHYRONINE; PERTECHNETIC ACID TC 99M; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GOITER; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; IODIDE TRANSPORT DEFECT; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SODIUM TRANSPORT; THYROID DISEASE;

CARRIER PROTEINS; CODON; CONGENITAL HYPOTHYROIDISM; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; HOMOZYGOTE; HUMANS; HYPOTHYROIDISM; IODINE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SYMPORTERS; THYROTROPIN;

EID: 0031727120     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.8.2940     Document Type: Article

References (20)

1. Wolff J. 1983 Congenital goiter with defective iodide transport. Endocr Rev. 4:240-254.
2. Stanbury JB. 1972 Familial goiter. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. The metabolic basis of inherited disease. 3rd ed. New York: McGraw-Hill; 223-265.
3. Brown-Grant K. 1961 Extrathyroidal iodide concentrating mechanisms. Physiol Rev. 41:189-214.
4. Toyoshima K, Matsumoto Y, Nishida M, et al. 1977 Five cases of absence of iodide concentrating mechanism. Acta Endocrinol (Copenh). 84:527-537.
5. Nagataki S, Shizume K, Nakao K. 1967 Thyroid function in chronic excess iodide ingestion: comparison of thyroidal absolute iodine uptake and degradation of thyroxine in euthyroid Japanese subjects. J Clin Endocrinol Metab. 27:638-647.
6. Dai G, Levy O, Carrasco N. 1996 Cloning and characterization of the thyroid iodide transporter. Nature. 379:458-460.
7. Reizer J, Reizer A, Saier Jr MH. 1994 A functional superfamily of sodium/ solute symporters. Biochim Biophys Acta. 1197:133-166.
8. - symporter. Nature Genetics. 16:124-125. [corrections: 1997 Nature Genetics. 17:122.].
9. Pohlenz J, Medeiros-Neto G, Gross JL, et al. 1997 Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. Biochem Biophys Res Commun. 240:488-491.
10. Kodama S, Yoshimura R, Shimizu H, et al. 1994 The diagnostic study of congenital hypothyroidism based on scintigraphy, ultrasound imaging and serum thyroglobulin level. In: Takasugi N, Naruse H, eds. New trends in neonatal screening. Sapporo, Japan: Hokkaido Univ. Press; 213-216.
11. Stanbury JB, Chapman EM. 1960 Congenital hypothyroidism with goiter. Lancet. 1:1162-1165.
12. Sarne DH, Refetoff S. 1995 Thyroid function tests. In: DeGroot LJ, eds. Endocrinology, 3rd ed. Philadelphia: WB Saunders; 617-664. vol 1.
13. Miller SA, Dykes DD, Polesky HF. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
14. Smanik PA, Ryu KY, Theil KS, et al. 1997 Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter. Endocrinology. 138:3555-3558.
15. 2+ sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 75:1297-1303.
16. Patten JL, Johns DR, Valle D, et al. 1990 Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med. 322:1412-1419.
17. Spiegel AM. 1996 Defects in G protein-coupled signal transduction in human disease. Annu Rev Physiol. 58:143-170.
18. Yoshida S, Takamatsu J, Kuma K, et al. 1996 A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality. J Clin Endocrinol Metab. 81:1961-1966.
19. Takeshita A, Nagayama Y, Yokoyama N, et al. 1995 Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan. J Clin Endocrinol Metab. 80:2607-2611.
20. Studer H, Gerber H. 1995 Multinodular Goiter. In: DeGroot LJ, eds. Endocrinology, 3rd ed. Philadelphia: WB Saunders; 769-782. vol 1.