A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect

Thyroid

Volumn 10, Issue 6, 2000, Pages 471-474

  Fujiwara, Hirokazu ^a   Tatsumi, Ke Ita ^a   Tanaka, Susumu ^a   Kimura, Masahiro ^a   Nose, Osamu ^b   Amino, Nobuyuki ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b Nose Clinic   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

IODIDE; MUTANT PROTEIN; SODIUM IODIDE;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; MALE; MISSENSE MUTATION; MULTIGENE FAMILY; PRIORITY JOURNAL; THYROID CELL; THYROID DISEASE;

EID: 0033917722     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2000.10.471     Document Type: Article

References (11)

1. Vassart G, Dumont JE, Refetoff S 1995 Thyroid disorders. In: Scriver CS, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 2883-2928.
2. - symporter. Nat Genet 16:124-125.
3. - symporter in patients with iodide transport defect. J Clin Endocrinol Metab 83:2940-2943.
4. Kosugi S, Sato Y, Matsuda A, Ohyama Y, Fujieda K, Inomata H, Kameya T, Isozaki O, Jhiang SM 1998 High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures. J Clin Endocrinol Metab 83:4123-1129.
5. Toyoshima K, Matsumoto Y, Nishida M, Yabuuchi H 1977 Five cases of absence of iodide concentrating mechanism. Acta Endocrinol Copenh 84:527-537.
6. 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.
7. Turk E, Wright EM 1997 Membrane topology motifs in the SGLT cotransporter family. J Membrane Biol 159:1-20.
8. Pohlenz J, Medeiros-Neto G, Gross JL, Silveiro 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.
9. 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.
10. Kosugi S, Bhayana S, Dean HJ. 1999 A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. J Clin Endocrinol Metab 84:3248-3253.
11. +/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. Nat Genet 12:216-220.