Activating mutations of the thyrotropin receptor: A short review with emphasis on some pediatric aspects

European Journal of Endocrinology

Volumn 138, Issue 4, 1998, Pages 353-357

  Polak, Michel ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN RECEPTOR;

GENE MUTATION; GOITER; HUMAN; HYPERTHYROIDISM; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RECEPTOR BINDING; REVIEW; THYROID ADENOMA;

ADENOMA; CHILD; GERM-LINE MUTATION; HUMANS; HYPERTHYROIDISM; INFANT, NEWBORN; MUTATION; PHENOTYPE; RECEPTORS, THYROTROPIN; SIGNAL TRANSDUCTION; THYROID NEOPLASMS;

EID: 0031979909     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1380353     Document Type: Review

References (35)

1. Parmentier M, Libert F, Maenhaut C, Lefort A, Gerard C, Perret J, Van Sande J, Dumont JE & Vassart G. Molecular cloning of the thyrotropin receptor. Science 1989 246 1620-1622.
2. Vassart G & Dumont JE. The thyrotropin receptor and the regulation of thyrocyte function and growth. Endocrine Reviews 1992 13 596-611.
3. Gross B, Misrahi M, Sar S & Milgrom E. Composite structure of the human thyrotropin receptor gene. Biochemical and Biophysical Research Communications 1991 177 679-687.
4. Tonacchera M, Van Sande J, Parma J, Duprez L, Cetani F, Costagliola S, Dumont JE & Vassart G. TSH receptor and disease. Clinical Endocrinology 1996 44 621-633.
5. Dremier S, Coppee F, Delange F, Vassart G, Dumont JE & Van Sande J. Thyroid autonomy: mechanism and clinical effects. Clinical review 84. Journal of Clinical Endocrinology and Metabolism 1996 12 4187-4193.
6. De Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E & Misrahi M. A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. Journal of Clinical Endocrinology and Metabolism 1996 81 2023-2026.
7. Paschke R & Ludgate M. The thyrotropin receptor in thyroid diseases. New England Journal of Medicine 1997 337 1675-1681.
8. Wess J. G-protein-coupled receptors: molecular mechanisms involved in receptor activation and selectivity of G-protein recognition. FASEB Journal 1997 11 346-354.
9. Laurent E, Mockel J, Van Sande J, Graff I & Dumont JE. Dual activation by thyrotropin of the phospholipase C and cyclic AMP cascades in human thyroid. Molecular and Cellular Endocrinology 1987 52 273-278.
10. Van Sande J, Raspe E, Perret J, Lejune C, Maenhaut C, Vassart G & Dumont JE. Thyrotropin activates both the cAMP and the PIP2 cascades in CHO-K1 cells expressing the human cDNA of thyrotropin receptor. Molecular and Cellular Endocrinology 1990 74 R1-R6.
11. Allgeier A, Offermans S, Van Sande J, Spicher K, Schultz G & Dumont JE. The human thyrotropin receptor activates G-protein Gs and Gq11. Journal of Biological Chemistry 1994 269 13733-13735.
12. 2+ cascade in mediating the effects of thyrotropin and iodide on hormone synthesis and secretion in human thyroid slices. Journal of Clinical Endocrinology and Metabolism 1994 79 152-159.
13. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont JE & Vassart G. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993 365 649-651.
14. Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G & Avvedimento VE. Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Journal of Clinical Endocrinology and Metabolism 1994 79 657-661.
15. Paschke R, Tonacchera M, Van Sande J, Parma J & Vassart G. Identification and functional characterization of two new somatic mutations causing constitutive activation of the TSH receptor in hyperfunctioning autonomous adenomas of the thyroid. Journal of Clinical Endocrinology and Metabolism 1994 79 1785-1789.
16. Tonacchera M, Van Sande J, Cetani F, Swillens S, Schvartz C, Winiszewski P, Portmann L, Dumont JE, Vassart G & Parma J. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. Journal of Clinical Endocrinology and Metabolism 1996 81 547-554.
17. Derwahl M. TSH receptor and Gs-alpha gene mutations in the pathogenesis of toxic thyroid adenomas - a note of caution. Journal of Clinical Endocrinology and Metabolism 1996 81 2783-2785.
18. ++ cascades. Molecular Endocrinology 1995 9 725-733.
19. Russo D, Arturi F, Suarez HG, Schlumberger M, Du Villard JA, Crocetti U & Filetti S. Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. Journal of Clinical Endocrinology and Metabolism 1996 81 1548-1551.
20. Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, Costagliola S, Rodien P, Dumont JE & Vassart G. Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs-alpha gene as a cause of toxic thyroid adenomas. Journal of Clinical Endocrinology and Metabolism 1997 82 2695-2701.
21. Thomas JL, Leclère J, Hartemann P, Duheille J, Orgiazzi J, Petersen M, Janot C & Guedenet JC. Familial hyperthyroidism without evidence of autoimmunity. Acta Endocrinologica 1982 100 512-518.
22. Duprez L, Parma J, Van Sande J, Allgeir A, Leclère J, Schwartz, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J & Vassart G. Germline mutations in the thyrotropin receptor gene cause non-autosomal dominant hyperthyroidism. Nature Genetics 1994 7 396-401.
23. Schwab KO, Sohlemann P, Gerlich M, Broecker M, Petrykowski WV, Holzapfel HP, Paschke R, Gruters A & Derwahl M. Mutations of the TSH receptor as a cause of congenital hyperthyroidism. Experimental and Clinical Endocrinology and Diabetes 1996 104 124-128.
24. Leclère J, Bene MC, Aubert V, Klein M, Pascal-Vigneron V, Weryha G & Faure G. Clinical consequences of activating mutations of TSH receptor, the concept of toxic hyperplasia. Hormone Research 1997 47 158-162.
25. Kopp P, Van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE & Vassart G. Congenital hyperthyroidism caused by a mutation in the thyrotropin receptor gene. New England Journal of Medicine 1995 332 150-154.
26. Holzapfel HP, Wonerow P, Von Petrykowski W, Henschen M, Scherbaum WA & Paschke R. Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. Journal of Clinical Endocrinology and Metabolism 1997 82 3879-3884.
27. Crisp MS, Lane C, Halliwell M, Wynford-Thomas D & Ludgate M. Thyrotropin receptor transcripts in human adipose tissue. Journal of Clinical Endocrinology and Metabolism 1997 82 2003-2005.
28. Duprez L, Parma J, Costagliola S, Hermans J, Van Sande J, Dumont JE & Vassart G. Constitutive activation of the TSH receptor by spontaneous mutations affecting the N-terminal extracellular domain. FEBS Letters 1997 409 469-474.
29. Kopp P, Muirhead S, Jourdain N, Gu WX, Jameson JL & Rodd C. Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281isoleucine) in the extracellular domain of the thyrotropin receptor. Journal of Clinical Investigation 1997 100 1634-1639.
30. Kopp P, Jameson JL & Roe TF. Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. Thyroid 1997 7 765-770.
31. Hollingsworth D, Mabry C & Eckerd JM. Hereditary aspects of Graves disease in infancy and childhood. Journal of Pediatrics 1972 81 446-459.
32. Hollingsworth D & Mabry C. Congenital Graves disease. Four familial cases with long-term follow-up and perspective. American Journal of Disabled Children 1976 130 148-155.
33. Cotecchia S, Exum S, Caron MG & Lefkowitz RJ. Regions of the alpha 1-adrenergic receptor involved in coupling to phosphatidylinositol hydrolysis and enhanced sensitivity of biological function. Proceedings of the National Academy of Sciences of the USA 1990 87 2896-2900.
34. Van Sande J, Parma J, Tonacchera M, Dumont J & Vassart G. Somatic and germline mutations of the TSH receptor gene in thyroid diseases. Journal of Clinical Endocrinology and Metabolism 1995 80 2577-2585.
35. Leclère J, Bene MC, Duprez A, Faure G, Thomas JL. Vignaud M & Burlet C. Behaviour of thyroid tissue from patients with Graves disease in nude mice. Journal of Clinical Endocrinology and Metabolism 1984 59 175-177.