Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 9, 1998, Pages 3373-3376

  Kosugi, Shinji ^a   Inoue, Shinobu ^b   Matsuda, Akira ^a   Jhiang, Sissy M ^c  

^a KYOTO UNIVERSITY   (Japan)

^b UNIVERSITY OF MIYAZAKI   (Japan)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FOLLITROPIN; IODIDE; IODINE 123;

ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENOTYPE; HUMAN; IODINE DEFICIENCY; JAPAN; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THYROID DISEASE;

ADOLESCENT; ADULT; ANIMALS; BIOLOGICAL TRANSPORT, ACTIVE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; COS CELLS; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPOTHYROIDISM; IODIDES; JAPAN; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; SYMPORTERS; TRANSFECTION;

EID: 0031797296     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.9.3373     Document Type: Article

References (8)

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. Saito K, Yamamoto K, Yoshida S, et al. 1981 Goitrous hypothyroidism due to iodide-trapping defect. J Clin Endocrinol Metab. 53:1267-1272.
4. 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.
5. Kosugi S, Sato Y, Matsuda A, et al. 1998 High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures. In preparation.
6. - symporter. Nat Genet. 16:124-125.
7. 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.
8. Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S. 1998 Congenital hypothyroidism due to mutations in the sodium/iodide symporter. J Clin Invest. 101:1028-1035.