Extending the clinical heterogeneity of iodide transport defect (ITD): A novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 4, 2006, Pages 1199-1204

  Szinnai, Gabor ^a   Kosugi, Shinji ^b   Derrien, Christèle ^c   Lucidarme, Nadine ^d   David, Véronique ^c   Czernichow, Paul ^d   Polak, Michel ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b KYOTO UNIVERSITY   (Japan)

^c RENNES UNIVERSITY HOSPITAL   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COTRANSPORTER; IODIDE; SODIUM IODIDE SYMPORTER; THYROID HORMONE; DIAGNOSTIC AGENT; DNA; IODINE; RADIOACTIVE IODINE;

ANAMNESIS; CASE REPORT; CELL MEMBRANE; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL HYPOTHYROIDISM; EXON; GENE ACTIVITY; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; GOITER; HORMONE SUBSTITUTION; HUMAN; IMMUNOCYTOCHEMISTRY; IN VITRO STUDY; IODIDE TRANSPORT DEFECT; MALE; NEWBORN PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; SODIUM TRANSPORT; THYROID SCINTISCANNING; AGING; ANIMAL; ARTICLE; CELL STRAIN COS1; CERCOPITHECUS; GENE VECTOR; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HYPOTHYROIDISM; IMMUNOHISTOCHEMISTRY; INBORN ERROR OF METABOLISM; METABOLISM; MUTATION; NEWBORN; ONSET AGE; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; SCINTISCANNING; THYROID GLAND;

AGE OF ONSET; AGING; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA; EXONS; GENETIC VECTORS; GENOTYPE; GOITER; HUMANS; HYPOTHYROIDISM; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; IODIDES; IODINE; IODINE RADIOISOTOPES; MALE; METABOLISM, INBORN ERRORS; MUTATION; PHENOTYPE; SYMPORTERS; THYROID GLAND; TRANSFECTION;

EID: 33646063580     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-1832     Document Type: Conference Paper

References (26)

1. Stanbury JB, Chapman EM 1960 Congenital hypothyroidism with goiter: absence of an iodide-concentrating mechanism. Lancet 1:1162-1165
2. Wolff J, Thompson RH, Robbins J 1964 Congenital goiterous cretinism due to the absence of iodide-concentrating ability. J Clin Endocrinol Metab 24:699-707
3. - symporter. Nat Genet 16:124-125
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. Wolff J 1983 Congenital goiter with defective iodide transport. Endocr Rev 4:240-254
6. Dohan O, de la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N 2003 The sodium/iodide symporter (NIS): characterization, regulation, and medical significance. Endocr Rev 24:48-77
7. Dai G, Levy O, Carrasco N 1996 Cloning and characterization of the thyroid iodide transporter. Nature 379:458-460
8. Smanik PA, Liu Q, Furminger TL, Ryu K, Sing S, Mazzaferri EL, Jhiang SM 1996 Cloning of the human sodium iodide symporter. Biochem Biophys Res Commun 226:339-345
9. Pohlenz J, Medeiros-Neto G, Gross JL, Silveira 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 transporter gene. Biochem Biophys Res Commun 240:488-491
10. - symporter in patients with iodide transport defect. J Clin Endocrinol Metab 83:2940-2943
11. 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
12. Kosugi S, Sato Y, Matsuda A, Ohyama Y, Fujieda K, Inomata H, Kameya T IO, Jhiang SM 1998 High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical picture. J Clin Endocrinol Metab 83:4123-4129
13. 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
14. 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
15. Fujiwara H, Tatsumi K, Tanka S, Kimura M, Nose O, Amino N 2000 A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect. Thyroid 10:471-474
16. Kosugi S, Okamoto H, Tamada A, Sanchez-Franco F 2002 A novel peculiar mutation in the sodium/iodide symporter gene in Spanish siblings with iodide transport defect. J Clin Endocrinol Metab 87:3830-3836
17. Tonacchera M, Agretti P, De Marco G, Elisei R, Perri A, Ambrogini E, De Servi M, Ceccarelli C, Viacava P, Refetoff S, Panunzi C, Manca Bitti ML, Vitti P, Chiovato L, Pinchera A 2003 Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. Clin Endocrinol (Oxf) 59:500-506
18. de Benoist B, Andersson M, Egli I, Takkouche B, Allen H, eds. 2004 Iodine status worldwide. WHO global database on iodine deficiency. Geneva: World Health Organization
19. - symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. FEBS Lett 429:36-40
20. - symporter activity requires a small and uncharged amino acid residue at position 395. Mol Endocrinol 16:1893-1902
21. De la Vieja A, Ginter CS, Carrasco N 2004 The Q267E mutation in the sodium/iodide symporter (NIS) causes congenital iodide transport defect (ITD) by decreasing the NIS turnover number. J Cell Sci 117:677-687
22. - symporter. Mol Endocrinol 19:2847-2858
23. New England Congenital Hypothyroidism Collaborative 1981 Effects of neonatal screening for hypothyroidism: prevention of mental retardation by treatment before clinical manifestation. Lancet 2:1095-1098
24. Medeiros-Neto G, Bunduki V, Tomimori E, Gomes S, Knobel M, Martin RT, Zugaib M 1997 Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis. J Clin Endocrinol Metab 82:4239-4242
25. Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM 2003 Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-A [R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab 88:3546-3553
26. Andersen HJ 1961 Studies of hypothyroidism in children. Acta Paediatr 50(Suppl 125):1-150