Nat Genet. 1994 Jul;7(3):396-401.

Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.

Duprez L, Parma J, Van Sande J, Allgeier A, Leclère J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, et al.

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Institut de Recherche Interdisciplinaire, Faculty of Medicine, University of Brussels, Belgium.

Abstract

The thyrotropin receptor (TSHR), a member of the large family of G protein-coupled receptors, controls both the function and growth of thyroid cells via stimulation of adenylyl cyclase. We report two different mutations in the TSHR gene of affected members of two large pedigrees with non-autoimmune autosomal dominant hyperthyroidism (toxic thyroid hyperplasia), that involve residues in the third (Val509Ala) and seventh (Cys672Tyr) transmembrane segments. When expressed by transfection in COS-7 cells, the mutated receptors display a higher constitutive activation of adenylyl cyclase than wild type. This new disease entity is the germline counterpart of hyperfunctioning thyroid adenomas, in which different somatic mutations with similar functional characteristics have been demonstrated.

PMID:: 7920658; [PubMed - indexed for MEDLINE]

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Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosphate-Ca2+ cascades. [Mol Endocrinol. 1995]
Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosphate-Ca2+ cascades.
Parma J, Van Sande J, Swillens S, Tonacchera M, Dumont J, Vassart G. Mol Endocrinol. 1995 Jun; 9(6):725-33.
Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. [Nature. 1993]
Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas.
Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont J, Vassart G. Nature. 1993 Oct 14; 365(6447):649-51.
Review New pathophysiological mechanisms for hyperthyroidism. [Horm Res. 1997]
Review New pathophysiological mechanisms for hyperthyroidism.
Vassart G. Horm Res. 1997; 48 Suppl 4:47-50.
Review Constitutively activating mutations of the thyrotropin receptor and thyroid disease. [Eur J Med Res. 1996]
Review Constitutively activating mutations of the thyrotropin receptor and thyroid disease.
Führer D, Holzapfel HP, Wonerow P, Paschke R. Eur J Med Res. 1996 Jul 25; 1(10):460-4.
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. [J Clin Endocrinol Metab. 1996]
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
Tonacchera M, Van Sande J, Cetani F, Swillens S, Schvartz C, Winiszewski P, Portmann L, Dumont JE, Vassart G, Parma J. J Clin Endocrinol Metab. 1996 Feb; 81(2):547-54.

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Cited by 21 PubMed Central articles

Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation. [Thyroid Res. 2011]
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.
Biebermann H, Winkler F, Handke D, Grüters A, Krude H, Kleinau G. Thyroid Res. 2011 Aug 3; 4 Suppl 1:S8. Epub 2011 Aug 3.
Constitutive activation of the thyroid-stimulating hormone receptor (TSHR) by mutating Ile691 in the cytoplasmic tail segment. [PLoS One. 2011]
Constitutive activation of the thyroid-stimulating hormone receptor (TSHR) by mutating Ile691 in the cytoplasmic tail segment.
Liu Z, Fan F, Xiao X, Sun Y. PLoS One. 2011 Jan 21; 6(1):e16335. Epub 2011 Jan 21.
Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity. [Thyroid. 2010]
Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.
Nishihara E, Chen CR, Higashiyama T, Mizutori-Sasai Y, Ito M, Kubota S, Amino N, Miyauchi A, Rapoport B. Thyroid. 2010 Nov; 20(11):1307-14. Epub 2010 Oct 7.

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Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.

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