A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 6, 1996, Pages 2023-2026

  De Roux, Nicolas ^a   Polak, Michel ^b   Couet, Jacques ^a,d   Leger, Juliane ^b   Czernichow, Paul ^b   Milgrom, Edwin ^a   Misrahi, Micheline ^a,c  

^a BICÊTRE HOSPITAL   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c INSERM   (France)

^d Medical Research Council of   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; PHOSPHOLIPASE C; THYROID ANTIBODY; THYROTROPIN RECEPTOR;

ARTICLE; CASE REPORT; CHROMOSOME INVERSION; CONGENITAL HYPOTHYROIDISM; DISEASE SEVERITY; ENZYME ACTIVITY; EXOPHTHALMOS; EYELID RETRACTION; GENE MUTATION; GENE SEQUENCE; GOITER; HUMAN; IMMUNE RESPONSE; MALE; NEWBORN; NEWBORN DISEASE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE; CYCLIC AMP; HUMANS; HYPERTHYROIDISM; INFANT, NEWBORN; MALE; MOLECULAR PROBES; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTORS, THYROTROPIN; THYROTROPIN; TOMOGRAPHY, X-RAY COMPUTED; TRANSFECTION;

EUKARYOTA;

EID: 0029973239     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.6.2023     Document Type: Article

References (31)

1. Becks GP, Burrow GN. 1991 Thyroid disease and pregnancy. Med Clin North Am. 75:121-150.
2. Zakarija M, McKenzie JM, Banovac K. 1980 Clinical significance of thyroid-stimulating antibody of Graves' disease. Ann Intern Med. 93:28-31.
3. Zakarija M, McKenzie JM. 1983 Pregnancy-associated changes in the thyroid-stimulating antibody of Graves' disease and the relationship to neonatal hyperthyroidism. J Clin Endocrinol Metab. 57:1036-1040.
4. Kopp P, Van Sande J, Parma J, et al. 1995 Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med. 332:150-154.
5. Orgiazzi JJ, Mornex R. 1990 In the Thyroid gland. In: Greer MA, ed. Hyperthyroidism. New York: Raven Press Ltd; 405-493.
6. Hilal SK, Trokel SL. 1977 Computerized tomography of the orbit using thin sections. Semin Roentgenol. 12:137-147.
7. Cabanis EA, Pineau H, Iba-Zizen MT, Coin JL, Newman N, Salvolini U. 1981 CT scanning in the neuro-ocular plane: the optic pathways as a new cephalic plane. Neuro-Ophthalmology. 1:237-252.
8. Godde-Jolly D, Pineau H, Iba-Zizen Mth, Muzac MS. 1983 Research by means of computerized tomography into correlation between orbital structure and the position of the globe; its application to strabismology. Ravault AP, Lenk M, eds. Fifth International orthoptic congress, Cannes. LIPS; 381-389.
9. Duke-Elder S, MacFaul PA. 1974 The ocular adnexa. In: Duke-Elder S, ed. System of ophthalmology. London: Henry Kimpton; 780-787.
10. Gross B, Misrahi M, Sar S, Milgrom E. 1991 Composite structure of the human thyrotropin receptor gene. Biochem Biophys Res Commun. 177:679-687.
11. Misrahi M, Loosfelt H, Atger M, Sar S, Guiochon-Mantel A, Milgrom E. 1990 Cloning, sequencing and expression of human TSH receptor. Biochem Biophys Res Commun. 166:394-403.
12. Misrahi M, Ghinea N, Sar S, et al. 1994 Processing of the precursors of the human TSH receptor in various eucaryotic cells (human thyrocytes, transfected L cells and baculovirus infected insect cells). Eur J Biochem. 222:711-719.
13. Berridge MJ, Dawson RMC, Doumer P, Heslop JP, Irvine RF. 1983 Changes in the levels of inositol phosphates after agonist-dependent hydrolysis of membrane phosphoinositides. Biochem J. 212:473-482.
14. Loosfelt H, Pichon C, Jolivet A, et al. 1992 Two subunit structure of the human TSH receptor. Proc Natl Acad Sci USA. 89:3765-3769.
15. Parma J, Duprez L, Van Sande J, et al. 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature. 365:649-651.
16. Paschke R, Tonacchera M, Van Sande J, Parma J, Vassart G. 1994 Identification and functional characterization of two somatic mutations causing constitutive action of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. J Clin Endocrinol Metab. 79:1785-1789.
17. Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G, Avvedimento VE. 1994 Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. J Clin Endocrinol Metab. 79:657-661.
18. Duprez L, Parma J, Van Sande J, et al. 1994 Germline mutations in the thyrotropin receptor gene cause nonautoimmune autosomal dominant hyperthyroidism. Nat Genet. 7:396-401.
19. Probst WC, Snyder LA, Schuster DI, Brosius J, Sealfon SC. 1992 Sequence alignment of the G-protein coupled receptor superfamily. DNA Cell Biol. 11:1-20.
20. Attwood TK, Eliopoulos EE, Findlay JBC. 1991 Multiple sequence alignment of protein families showing low sequence homology: a methodological approach using database pattern-matching discriminators for G-protein-linked receptors. Gene. 98:153-159.
21. Franklyn JA. 1993 Graves'ophthalmopathy and the TSH receptor. Lancet. 342:318-319.
22. Davies TF. 1994 The thyrotropin receptors spread themselves around. J Clin Endocrinol Metab. 79:1232-1233.
23. Feliciello A, Porcellini A, Ciullo I, Bonaolonta G, Avvedimento VE, Fenzi GF. 1993 Expression of thyrotropin-receptor specific mRNA in healthy and Graves' disease retroorbital tissue. Lancet. 342:337-338.
24. Paschke R, Metcalfe A, Alcalde L, Vassart G, Weetman A, Ludgate M. 1994 Presence of nonfunctional thyrotropin receptor variant transcripts in retroocular and other tissues. J Clin Endocrinol Metab. 79:1234-1238.
25. Burch HB, Sellitti D, Barnes SG, Nagy EV, Bahn RS, Burman KD. 1994 Thyrotropin receptor antisera for the detection of immunoreactive protein species in retroocular fibroblasts obtained from patients with Graves' ophthalmopathy. J Clin Endocrinol Metab. 78:1384-1391.
26. Heufelder AE, Poertl S, Mann K, Hoermann R. Immunoglobulins derived from sera of patients with active Graves' ophthalmopathy induce HLA-DR expression in retroorbital fibroblasts via the TSH receptor. Proceedings of the 77th Annual Meeting of The Endocrine Society, Washington DC, 1995, (Abstract P2-440), p 400.
27. Heufelder AE, Bahn RS. 1992 Graves' immunoglobulins and cytokines stimulate the expression of intercellular adhesion molecule-1. Eur J Clin Invest. 22:529-537.
28. Heufelder AE, Wenzel BE, Bahn RS. 1991 Detection, cellular localization, and modulation of heat shock proteins in cultured fibroblasts form patients with extrathyroidal manifestation of Graves' disease. J Clin Endocrinol Metab. 73:739-745.
29. Rotella CM, Zonefrati R, Toccafondi R, Valente WA, Kohn LD. 1986 Ability of monoclonal antibodies to the thyrotropin receptor to increase collagen synthesis in human fibroblasts: an assay which appears to measure exophthalmogenic immunoglobulins in Graves' sera. J Clin Endocrinol Metab. 62:357-367.
30. Smith TJ, Bahn RS, Gorman CA. 1989 Connective tissue, glycosaminoglycans, and diseases of the thyroid. Endocr Rev. 10:366-391.
31. Ono S, Schwartz ID, Mueller OT, Root AW, Usala SJ, Bereu BB. 1991 Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. J Clin Endocrinol Metab. 73:990-994.