High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 11, 1998, Pages 4123-4129

  Kosugi, Shinji ^a   Sato, Yuichi ^b   Matsuda, Akira ^a   Ohyama, Yoshihide ^c   Fujieda, Kenji ^d   Inomata, Hiroaki ^e   Kameya, Toru ^b   Isozaki, Osamu ^f   Jhiang, Sissy M ^g  

^a KYOTO UNIVERSITY   (Japan)

^b KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Ohyama Clinic   (Japan)

^d HOKKAIDO UNIVERSITY   (Japan)

^e TEIKYO UNIVERSITY   (Japan)

^f TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^g OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; IODIDE; MESSENGER RNA;

ADULT; ARTICLE; BASOLATERAL MEMBRANE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENE OVEREXPRESSION; GOITER; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOTHYROIDISM; IMMUNOBLOTTING; JAPAN; MALE; PRIORITY JOURNAL; SCHOOL CHILD; THYROID CELL;

EID: 0031763451     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.11.4123     Document Type: Article

References (29)

1. Wolff J. 1983 Congenital goiter with defective iodide transport. Endocr Rev. 4:240-254.
2. Stanbury JB, Dumont JE. 1983 Familial goiter and related disorders. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. New York: McGraw-Hill; 231-269.
3. Stanbury JB, Chapman EM. 1960 Congenital hypothyroidism with goiter: absence of an iodide-concentrating mechanism. Lancet. 1:1162-1165.
4. Wolff J, Thompson RH, Robbins J. 1964 Congenital goitrous cretinism due to the absence of iodide-concentrating ability. J Clin Endocrinol Metab. 24:699-707.
5. Gilboa Y, Ber A, Lewitus Z, Lubin E, Gordon A, Stein O. 1966 Goitrous myxedema with defect in iodide trapping and hormonogenesis. Isr J Med Sci. 2:145-151.
6. Medeiros-Neto GA, Bloise W, Ulhoa-Cintra AB. 1972 Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism. J Clin Endocrinol Metab. 35:370-377.
7. Hamada S, Matsumura T, Yawata M. 1974 A case of iodide concentration disorder thyroid disease accompanied by citrullinemia. Nippon Rinsho. 32:2439-2442.
8. Matsuura M, Nishihata N, Kondo M, Zensaka N, Suwa S. 1975 An infant case of goitrous hypothyroidism due to iodide concentration disorders. Clin Endocrinol (Tokyo). 23:531-534.
9. Inomata H, Tamaru K, Sato H, Sasaki N, Niimi H, Nakajima H. 1988 Two siblings of absence of iodide-concentrating mechanism. Nippon Shonika Gakkai Zasshi. 92:2383-2388.
10. Miki K, Nose O, Tajiri H, et al. 1987 A case of congenital hypothyroidism due to iodide trapping defect with normal thyroid function transiently in her neonatal period. Clin Endocrinol (Tokyo). 37:945-948.
11. Leger FA, Doumith R, Courpotin C, et al. 1987 Complete iodide trapping defect in two cases with congenital hypothyroidism: adaptation of thyroid to huge iodide supplementation. Eur J Endocrinol. 17:249-255.
12. Couch RM, Dean HJ, Winter JSD. 1985 Congential hypothyroidism caused by defective iodide transport. J Pediatr. 106:950-953.
13. Vulsma T, Rammeloo JA, Gons MH, De Vijlder JJM. 1991 The role of serum thyroglobulin concentration and thyroid ultrasound imaging in the detection of iodide transport defect in infants. Acta Endocrinol (Copenh). 124:405-410.
14. Albero R, Cerdan A, Sanchez-Franco F. 1987 Congenital hypothyroidism from complete iodide transport defect: long term evolution with iodide treatment. Postgard Med J. 63:1043-1047.
15. Matsuda A, Kosugi S. 1997 A homozygous missense mutation of sodium/ iodide symporter gene causing iodide transport defect. J Clin Endocrinol Metab. 82:3966-3971.
16. - symporter. Nat Genet. 16:124-125.
17. Pohlenz J, Mederios-Neto G, Gross JL, Silverio SP, Knobel M, Refetoff S. 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.
18. Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S. 1998 Congenital hypothyroidism due to mutations in the sodium/iodide symporter: identification of a nonsense mutation producing a downstream cryptic 3′ splice site. J Clin Invest. 101:1028-1035.
19. 18a. Kosugi S, Inoue S, Matsuda A, Jhiang SM. 1998 Novel, missense, and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. J Clin Endocrinol Metab. 83:3373-3376.
20. Dai G, Levy O, Carrasco N. 1996 Cloning and characterization of the thyroid iodide transporter. Nature. 379:458-460.
21. Smanik PA, Liu Q, Furminger TL, Xing KR, Mazzaferri EL, Jhiang SM. 1996 Cloning of the human sodium iodide symporter. Biochem Biophys Res Commun. 226:339-345.
22. Morris JC. 1997 Mutations and disorders involving the thyroid iodide transporter: the next wave in thyroid diseases. J Clin Endocrinol Metab. 82:3964-3965.
23. Smanik PA, Ryu K-Y, Theil KS, Mazzaferri EL, Jhiang SM. 1997 Expression, exon-intron organization, and chromosomal mapping of the human sodium/ iodide symporter. Endocrinology. 138:3555-3558.
24. - symporter with an anti-COOH terminus antibody. Proc Natl Acad Sci USA. 94:5568-5573.
25. Vyberg M, Nielson S. 1998 Dextran polymer conjugate two-step visualization system for immunohistochemistry. Appl Immunohistochem. 6:3-10.
26. Kogai T, Endo T, Saito T, Miyazaki A, Kawaguchi A, Onaya T. 1997 Regulation of thyroid-stimulating hormone of sodium/iodide symporter gene expression and protein levels in FRTL-5 cells. Endocrinology. 138:2227-2232.
27. - symporter. Folia Endocrinol. 73:66.
28. Miyai K, Oura T, Tsuruhara T, et al. 1978 Mass screening for neonatal hypothyroidism. Sogo Rinsho. 27:651-660.
29. Nakajima H, Niimi H, Fujimori M. 1966 Inborn error of iodide metabolism. Taisha. 3:836-843.