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Molecular Diagnosis & Therapy
Erschienen in:

01.06.2019 | Review Article

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)

verfasst von: Paola Concolino, Alessandra Costella, Rosa Maria Paragliola

Erschienen in: Molecular Diagnosis & Therapy | Ausgabe 3/2019

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Abstract

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). In most cases, the disorder is associated with germline pathogenic variants in the thyroid hormone receptor beta (THRB) gene. This paper summarizes the clinical and biochemical presentation of the disease, providing a comprehensive overview on molecular genetic features. Particular care is given in reporting all identified THRB variants with an assessed or unknown clinical significance. Our aim is to offer a useful tool for clinical and genetic specialists in order to ease clinical diagnosis and genetic counseling.
Literatur
1.
Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967;27:279–94.CrossRefPubMed
2.
Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014;24:407–9.CrossRefPubMedPubMedCentral
3.
Weiss E, Dumitrescu A, Refetoff S. Syndromes of impaired sensitivity to thyroid hormone. In: Weiss RE, Refetoff S, editors. Genetic diagnosis of endocrine disorders, second editon. Amsterdam: Elsevier Inc; 2016.
4.
Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, et al. A mutation in the thyroid hormone receptor alpha gene. N Engl J Med. 2012;366:243–9.CrossRefPubMed
5.
Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ. Clinical and molecular characteristics of SLC16A2 (MCT8) mutations in three families with the Allan-Herndon-Dudley syndrome. Hum Mutat. 2017;38:260–4.CrossRefPubMed
6.
Namba N, Etani Y, Kitaoka T, Nakamoto Y, Nakacho M, Bessho K, et al. Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter. Eur J Pediatr. 2008;167:785–91.CrossRefPubMed
7.
Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005;37:1247–52.CrossRefPubMed
8.
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, et al. Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest. 2010;120:4220–35.CrossRefPubMedPubMedCentral
9.
Usala SJ, Bale AE, Gesundheit N, Weinberger C, Lash RW, Wondisford FE, McBride OW, Weintraub BD. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene. Mol Endocrinol. 1988;2:1217–20.CrossRefPubMed
10.
Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunca H, Seo H, Refetoff S. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. J Clin Endocrinol Metab. 1996;81:4196–203.PubMed
11.
Zhu XG, Yu CL, McPhie P, Wong R, Cheng SY. Understanding the molecular mechanism of dominant negative action of mutant thyroid hormone beta 1-receptors: the important role of the wild-type/mutant receptor heterodimer. Endocrinology. 1996;137:712–21.CrossRefPubMed
12.
Singh BK, Yen PM. A clinician’s guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha and TRbeta isoforms. Clin Diabetes Endocrinol. 2017;3:8.CrossRefPubMedPubMedCentral
13.
Tajima T, Jo W, Fujikura K, Fukushi M, Fujieda K. Elevated free thyroxine levels detected by a neonatal screening system. Pediatr Res. 2009;66:312–6.CrossRefPubMed
14.
Lafranchi SH, Snyder DB, Sesser DE, Skeels MR, Singh N, Brent GA, Nelson JC. Follow-up of newborns with elevated screening T4 concentrations. J Pediatr. 2003;143:296–301.CrossRefPubMed
15.
Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993;14:348–99.PubMed
16.
Favresse J, Burlacu MC, Maiter D, Gruson D. Interferences with thyroid function immunoassays: clinical implications and detection algorithm. Endocr Rev. 2018;39:830–50.CrossRefPubMed
17.
Machado DS, Sabet A, Santiago LA, Sidhaye AR, Chiamolera MI, Ortiga-Carvalho TM, Wondisford FE. A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo. Proc Natl Acad Sci USA. 2009;106:9441–6.CrossRefPubMed
18.
Kaplan MM, Swartz SL, Larsen PR. Partial peripheral resistance to thyroid hormone. Am J Med. 1981;70:1115–21.CrossRefPubMed
19.
Beck-Peccoz P, Lania A, Beckers A, Chatterjee K, Wemeau JL. 2013 European thyroid association guidelines for the diagnosis and treatment of thyrotropin-secreting pituitary tumors. Eur Thyroid J. 2013;2:76–82.CrossRefPubMedPubMedCentral
20.
Macchia E, Lombardi M, Raffaelli V, Piaggi P, Macchia L, Scattina I, Martino E. Clinical and genetic characteristics of a large monocentric series of patients affected by thyroid hormone (Th) resistance and suggestions for differential diagnosis in patients without mutation of Th receptor beta. Clin Endocrinol (Oxf). 2014;81:921–8.CrossRefPubMed
21.
Sriphrapradang C, Srichomkwun P, Refetoff S, Mamanasiri S. A novel thyroid hormone receptor beta gene mutation (G251V) in a Thai patient with resistance to thyroid hormone coexisting with pituitary incidentaloma. Thyroid. 2016;26:1804–6.CrossRefPubMedPubMedCentral
22.
Ando S, Sarlis NJ, Krishnan J, Feng X, Refetoff S, Zhang MQ, Oldfield EH, Yen PM. Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol Endocrinol. 2001;15:1529–38.CrossRefPubMed
23.
Furumoto H, Ying H, Chandramouli GV, Zhao L, Walker RL, Meltzer PS, Willingham MC, Cheng SY. An unliganded thyroid hormone beta receptor activates the cyclin D1/cyclin-dependent kinase/retinoblastoma/E2F pathway and induces pituitary tumorigenesis. Mol Cell Biol. 2005;25:124–35.CrossRefPubMedPubMedCentral
24.
Teng X, Jin T, Brent GA, Wu A, Teng W, Shan Z. A patient with a thyrotropin-secreting microadenoma and resistance to thyroid hormone (P453T). J Clin Endocrinol Metab. 2015;100:2511–4.CrossRefPubMedPubMedCentral
25.
Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007;21:277–305.CrossRefPubMed
26.
Unluturk U, Sriphrapradang C, Erdogan MF, Emral R, Guldiken S, Refetoff S, Güllü S. Management of differentiated thyroid cancer in the presence of resistance to thyroid hormone and TSH-secreting adenomas: a report of four cases and review of the literature. J Clin Endocrinol Metab. 2013;98:2210–7.CrossRefPubMedPubMedCentral
27.
Aoyama M, Yamasaki S, Tsuyuguchi M. A case of resistance to thyroid hormone diagnosed after total thyroidectomy for thyroid cancer. J Med Invest. 2015;62:268–71.CrossRefPubMed
28.
Vinagre J, Borges F, Costa A, Alvelos MI, Mazeto G, Sobrinho-Simões M, Soares P. Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature. Front Mol Biosci. 2014;1:10.CrossRefPubMedPubMedCentral
29.
Paragliola RM, Lovicu RM, Locantore P, Senes P, Concolino P, Capoluongo E, Pontecorvi A, Corsello SM. Differentiated thyroid cancer in two patients with resistance to thyroid hormone. Thyroid. 2011;21:793–7.CrossRefPubMed
30.
Hauser P, Zametkin AJ, Martinez P, Vitiello B, Matochik JA, Mixson AJ, Weintraub BD. Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. N Engl J Med. 1993;328:997–1001.CrossRefPubMed
31.
Groeneweg S, Peeters RP, Visser TJ, Visser WE. Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes. Mol Cell Endocrinol. 2017;458:82–90.CrossRefPubMed
32.
Ortiga-Carvalho TM, Sidhaye AR, Wondisford FE. Thyroid hormone receptors and resistance to thyroid hormone disorders. Nat Rev Endocrinol. 2014;10:582–91.CrossRefPubMedPubMedCentral
33.
Briet C, Bouhours-Nouet N, Illouz F, Prunier-Mirebeau D, Rodien P. TRα mutations in human. Methods Mol Biol. 2018;1801:241–5.CrossRefPubMed
34.
35.
Tagami T, Yamamoto H, Moriyama K, Sawai K, Usui T, Shimatsu A, Naruse M. Identification of a novel human thyroid hormone receptor beta isoform as a transcriptional modulator. Biochem Biophys Res Commun. 2010;396:983–8.CrossRefPubMed
36.
Pappa T, Refetoff S. Human genetics of thyroid hormone receptor beta: resistance to thyroid hormone beta (RTHβ). Methods Mol Biol. 2018;1801:225–40.CrossRefPubMed
37.
38.
Hodin RA, Lazar MA, Wintman BI, Darling DS, Koenig RJ, Larsen PR, Moore DD, Chin WW. Identification of a thyroid hormone receptor that is pituitary-specific. Science. 1989;244:76–9.CrossRefPubMed
39.
Yen PM. Physiological and molecular basis of thyroid hormone action. Physiol Rev. 2001;81:1097–142.CrossRefPubMed
40.
Oetting A, Yen PM. New insights into thyroid hormone action. Best Pract Res Clin Endocrinol Metab. 2007;21:193–208.CrossRefPubMed
41.
Lavery DN, McEwan IJ. Structure and function of steroid receptor AF1 transactivation domains: induction of active conformations. Biochem J. 2005;391:449–64.CrossRefPubMedPubMedCentral
42.
Cohen RN, Brzostek S, Kim B, Chorev M, Wondisford FE, Hollenberg AN. The specificity of interactions between nuclear hormone receptors and corepressors is mediated by distinct amino acid sequences within the interacting domains. Mol Endocrinol. 2001;15:1049–61.CrossRefPubMed
43.
Astapova I, Lee LJ, Morales C, Tauber S, Bilban M, Hollenberg AN. The nuclear corepressor, NCoR, regulates thyroid hormone action in vivo. Proc Natl Acad Sci USA. 2008;105:19544–9.CrossRefPubMed
44.
45.
Hashimoto K, Cohen RN, Yamada M, Markan KR, Monden T, Satoh T, Mori M, Wondisford FE. Cross-talk between thyroid hormone receptor and liver X receptor regulatory pathways is revealed in a thyroid hormone resistance mouse model. J Biol Chem. 2006;281:295–302.CrossRefPubMed
46.
Liu YY, Heymann RS, Moatamed F, Schultz JJ, Sobel D, Brent GA. A mutant thyroid hormone receptor α antagonizes peroxisome proliferator-activated receptor α signaling in vivo and impairs fatty acid oxidation. Endocrinology. 2007;148:1206–17.CrossRefPubMed
47.
Hollenberg AN, Monden T, Wondisford FE. Ligand-independent and -dependent functions of thyroid hormone receptor isoforms depend upon their distinct amino termini. J Biol Chem. 1995;270:14274–80.CrossRefPubMed
48.
Brent GA, Williams GR, Harney JW, Forman BM, Samuels HH, Moore DD, Larsen PR. Capacity for cooperative binding of thyroid hormone (T3) receptor dimers defines wild type T3 response elements. Mol Endocrinol. 1992;6:502–14.PubMed
49.
de Araujo AS, Martinez L, de Paula Nicoluci R, Skaf MS, Polikarpov I. Structural modeling of high-affinity thyroid receptor-ligand complexes. Eur Biophys J. 2010;39:1523–36.CrossRefPubMed
50.
Valadares NF, Polikarpov I, Garratt RC. Ligand induced interaction of thyroid hormone receptor β with its coregulators. J Steroid Biochem Mol Biol. 2008;112:205–12.CrossRefPubMed
51.
Zhang XK, Wills KN, Husmann M, Hermann T, Pfahl M. Novel pathway for TH receptor action through interaction with jun and fos oncogene activities. Mol Cell Biol. 1991;11:6016–25.CrossRefPubMedPubMedCentral
52.
Lopez G, Schaufele F, Webb P, Holloway JM, Baxter JD, Kushner PJ. Positive and negative modulation of Jun action by TH receptor at a unique AP1 site. Mol Cell Biol. 1993;13:3042–9.CrossRefPubMedPubMedCentral
53.
Pernasetti F, Caccavelli L, Van de Weerdt C, Martial JA, Muller M. TH inhibits the human prolactin gene promoter by interfering with activating protein-1 and estrogen stimulations. Mol Endocrinol. 1997;11:986–96.CrossRefPubMed
54.
Bodenner DL, Mroczynski MA, Weintraub BD, Radovick S, Wondisford FE. A detailed functional and structural analysis of a major TH inhibitory element in the human thyrotropin beta-subunit gene. J Biol Chem. 1991;266:21666–73.PubMed
55.
Hollenberg AN, Monden T, Flynn TR, Boers ME, Cohen O, Wondisford FE. The human thyrotropin-releasing hormone gene is regulated by TH through two distinct classes of negative TH response elements. Mol Endocrinol. 1995;9:540–50.PubMed
56.
Chatterjee VKK, Lee JK, Rentoumis A, Jameson JL. Negative regulation of the thyroid-stimulating hormone alpha gene by TH: receptor interaction adjacent to the TATA box. Proc Natl Acad Sci USA. 1889;86:9114–8.CrossRef
57.
Weiss RE, Weinberg M, Refetoff S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest. 1993;91:2408-15.
58.
Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest. 1994;94:506–15.CrossRefPubMedPubMedCentral
59.
Yoh SM, Chatterjee VK, Privalsky ML. Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors. Mol Endocrinol. 1997;11:470–80.CrossRefPubMedPubMedCentral
60.
Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, Rajanayagam O, Agostini M, Fletterick RJ, Beck-Peccoz P, Reinhardt W, Binder G, Ranke MB, Hermus A, Hesch RD, Lazarus J, Newrick P, Parfitt V, Raggatt P, de Zegher F, Chatterjee VK. A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. EMBO J. 1998;17:4760–70.CrossRefPubMedPubMedCentral
61.
Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab. 1992;74:49–55.PubMed
62.
Ono S, Schwartz ID, Mueller OT, Root AW, Usala SJ, Bercu BB. Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. J Clin Endocrinol Metab. 1991;73:990–4.CrossRefPubMed
63.
Frank-Raue K, Lorenz A, Haag C, Höppner W, Boll HU, Knorr D, Hentze S, Raue F. Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene. Eur J Endocrinol. 2004;150:819–23.CrossRefPubMed
64.
Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, Refetoff S. Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab. 2012;97:1328–36.CrossRefPubMedPubMedCentral
65.
66.
67.
Concolino P, Costella A. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: a comprehensive focus on 233 pathogenic variants of CYP21A2 gene. Mol Diagn Ther. 2018;22:261–80.CrossRefPubMed
68.
69.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.CrossRefPubMedPubMedCentral
70.
Zhou Z, Yang C, Lv F, Liu W, Yan S, Zang H, Li M, Wang F, Zang Y, Liu S. Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis. J Cell Biochem. 2018;119:9474–82.CrossRefPubMed
71.
Behr M, Loos U. A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance. Mol Endocrinol. 1992;6:1119–26.PubMed
72.
Onigata K, Yagi H, Sakurai A, Nagashima T, Nomura Y, Nagashima K, Hashizume K, Morikawa A. A novel point mutation (R243Q) in exon 7 of the c-erbA beta thyroid hormone receptor gene in a family with resistance to thyroid hormone. Thyroid. 1995;5:355–8.CrossRefPubMed
73.
Pohlenz J, Schönberger W, Wemme H, Winterpacht A, Wirth S, Zabel B. New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone. Hum Mutat. 1996;7:79–81.CrossRefPubMed
74.
Pohlenz J, Manders L, Sadow PM, Kansal PC, Refetoff S, Weiss RE. A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone. Thyroid. 1999;9:1195–203.CrossRefPubMed
75.
Asadi AB, Torjesen PA, Haug E, Berg JP. Biochemical characterization of four novel mutations in the thyroid hormone receptor beta gene in patients with resistance to thyroid hormone. Scand J Clin Lab Invest. 2008;68:563–7.CrossRefPubMed
76.
Shiwa T, Oki K, Awaya T, Nakanishi S, Yamane K. Resistance to thyroid hormone accompanied by Graves’ disease. Intern Med. 2011;50:1977–80.CrossRefPubMed
77.
Macchia E, Agostini M, Sarkissian G, Giorgilli G, Canale D, Scartabelli G, Margotat A, Torresani J, Pinchera A. Detection of a new de novo mutation at codon 251 of exon 8 of thyroid hormone receptor beta gene in an Italian kindred with resistance to thyroid hormone. J Endocrinol Invest. 1998;21:226–33.CrossRefPubMed
78.
Jézéquel P, Guilhem I, Hespel JP, Le Treut A, Gall JY, Allannic H, Blayau M. Identification of a novel mutation (A268G) in exon 8 of the HTR beta gene in a large family with thyroid hormone resistance. Hum Mutat. 1996;8:396.CrossRefPubMed
79.
Lam CW, On-Kei Chan A, Tong SF, Shek CC, Cheung Tiu S. DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone. Clin Chim Acta. 2005;358:55–9.CrossRefPubMed
80.
Monzani A, Moia S, Prodam F, Walker GE, Bellone S, Petri A, Bona G. A novel familial variation of the thyroid hormone receptor beta gene (I276N) associated with resistance to thyroid hormone. Thyroid. 2012;22:440–1.CrossRefPubMed
81.
Margotat A, Sarkissian G, Malezet-Desmoulins C, Peyrol N, Vlaeminck Guillem V, Wémeau JL, Torresani J. Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone. Ann Endocrinol (Paris). 2001;62:220–5.PubMed
82.
Ito J, Narumi S, Nishizawa K, Kamimaki T, Hori N, Hasegawa T. A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone. Clin Pediatr Endocrinol. 2016;25:19–22.CrossRefPubMedPubMedCentral
83.
Paragliola RM, Concolino P, De Rosa A, Mello E, Zuppi C, Pontecorvi A, Capoluongo E. Corsello SM The first case of association between postpartum thyroiditis and thyroid hormone resistance in an Italian patient showing a novel p.V283A THRB mutation. Thyroid. 2013;23:506–10.CrossRefPubMed
84.
Amor AJ, Halperin I, Alfayate R, Borrás VM, Escribano A, González C, Gutirrez A, Mauri M, Pérez P, Picό A, Vourliotaki I, Oriola J. Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone. Hormones (Athens). 2014;13:74–8.CrossRefPubMed
85.
Furlanetto TW, Kopp P, Peccin S, Gu WX, Jameson JL. A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate. Mol Genet Metab. 2000;71:520–6.CrossRefPubMed
86.
Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10–11 July 1993, Cambridge, UK. Clin Endocrinol (Oxf). 1994;40:697–700.CrossRefPubMed
87.
Nagashima T, Yagi H, Nagashima K, Sakurai A, Onigata K, Nomura Y, Morikawa A, Matazow G, Couch RM, Weiss RE, Refetoff S. A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone. Thyroid. 1997;7:771–3.CrossRefPubMed
88.
Slezak R, Lukienczuk T, Noczynska A, Karpinski P, Lebioda A, Misiak B, Sasiadek MM. A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait. Horm Metab Res. 2012;44:704–7.CrossRefPubMed
89.
Ramos LS, Kizys MML, Kunii IS, Spinola-Castro AM, Nesi-França S, Guerra RA, Camacho CP, Martins JRM, Maciel RMB, Dias-da-Silva MR, Chiamolera MI. Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center. Endocrine. 2018;62:628–38.CrossRefPubMed
90.
Kijima H, Kubo M, Ishizuka T, Kakinuma M, Koike T. A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone. Hum Genet. 1996;97:407–8.CrossRefPubMed
91.
Gurnell M, Rajanayagam O, Agostini M, Clifton-Bligh RJ, Wang T, Zelissen PM, van der Horst F, van de Wiel A, Macchia E, Pinchera A, Schwabe JW, Chatterjee VK. Three novel mutations at serine 314 in the thyroid hormone beta receptor differentially impair ligand binding in the syndrome of resistance to thyroid hormone. Endocrinology. 1999;140:5901–6.CrossRefPubMed
92.
Nakajima Y, Yamada M, Horiguchi K, Satoh T, Hashimoto K, Tokuhiro E, Onigata K, Mori M. Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor. Thyroid. 2010;20:917–26.CrossRefPubMed
93.
Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD. Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two “hot spot” regions of the ligand binding domain. J Clin Invest. 1991;88:2123–30.CrossRefPubMedPubMedCentral
94.
Esquiaveto-Aun AM, Zantut-Wittmann DE, Petroli RJ, Nakano BS, Guerra-Júnior G, de Lemos-Marini SH, de Mello MP. Two novel mutations in the thyroid hormone receptor β in patients with resistance to thyroid hormone (RTH β): clinical, biochemical, and molecular data. Horm Metab Res. 2015;47:889–94.CrossRefPubMed
95.
Dong Q, Gong CX, Gu Y, Su C. A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone. Chin Med J (Engl). 2011;124:1835–9.PubMed
96.
Kimura T, Hayashi Y, Tsukamoto Y, Okamoto Y. The mutant thyroid hormone receptor beta R320P causes syndrome of resistance to thyroid hormone. Case Rep Endocrinol. 2018;2018:4081769.PubMedPubMedCentral
97.
Cheng SY, Ransom SC, McPhie P, Bhat MK, Mixson AJ, Wintraub BD. Analysis of the binding of 3,3ʹ,5-triiodo-l-thyronine and its analogues to mutant human beta 1 thyroid hormone receptors: a model of the hormone binding site. Biochemistry. 1994;33:4319–26.CrossRefPubMed
98.
Borck G, Seewi O, Jung A, Schönau E, Kubisch C. Genetic causes of goiter and deafness: pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister. J Clin Endocrinol Metab. 2009;94:2106–9.CrossRefPubMed
99.
Grace MB, Buzard GS, Weintraub BD. Allele-specific associated polymorphism analysis: novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormone. Hum Mutat. 1995;6:232–42.CrossRefPubMed
100.
Sarkissian G, Dace A, Mesmacque A, Bony-Trifunovic H, Malezet-Desmoulins C, Torresani J, Margotat A. A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor beta gene. Thyroid. 1999;9:165–71.CrossRefPubMed
101.
Beato-Víbora P, Arroyo-Díez J, Rodríguez-López R. Thyroid hormone resistance caused by a novel deleterious variant of the thyroid hormone receptor beta gene. Eur J Obstet Gynecol Reprod Biol. 2013;167:118–9.CrossRefPubMed
102.
Pohlenz J, Wildhardt G, Zabel B, Willgerodt H. Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene. Thyroid. 1997;7:39–41.CrossRefPubMed
103.
Rivolta CM, Olcese MC, Belforte FS, Chiesa A, Gruñeiro-Papendieck L, Iorcansky S, Herzovich V, Cassorla F, Gauna A, Gonzalez-Sarmiento R, Targovnik HM. Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene. Mol Cell Probes. 2009;23:148–53.CrossRefPubMed
104.
Maraninchi M, Bourcigaux N, Dace A, El-Yazidi C, Malezet-Desmoulins C, Krempf M, Torresani J, Margotat A. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. Exp Clin Endocrinol Diabetes. 2006;114:569–76.CrossRefPubMed
105.
Mannavola D, Vannucchi G, Fugazzola L, Cerutti N, Persani L, Beck-Peccoz P. Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discovered. J Endocrinol Invest. 2002;25:RC4–6.CrossRefPubMed
106.
Collingwood TN, Adams M, Tone Y, Chatterjee VK. Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone beta-receptors in thyroid hormone resistance syndrome. Mol Endocrinol. 1994;8:1262–77.PubMed
107.
Pohlenz J, Schönberger W, Koffler T, Refetoff S. Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene. Thyroid. 1999;9:1001–4.CrossRefPubMed
108.
Asteria C, Rajanayagam O, Collingwood TN, Persani L, Romoli R, Mannavola D, Zamperini P, Buzi F, Ciralli F, Chatterjee VK, Beck-Peccoz P. Prenatal diagnosis of thyroid hormone resistance. J Clin Endocrinol Metab. 1999;84:405–10.CrossRefPubMed
109.
Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Bérard J, Bradley WE, Ono S, Mueller OT, Bercu BB. A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. Mol Endocrinol. 1991;5:327–35.CrossRefPubMed
110.
Usala SJ, Menke JB, Watson TL, Bérard WE, Bradley C, Bale AE, Lash RW, Weintraub BD. A new point mutation in the 3,5,3ʹ-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance. J Clin Endocrinol Metab. 1991;72:32–8.CrossRefPubMed
111.
112.
Kvistad PH, Løvås K, Boman H, Myking OL. Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation. Eur J Endocrinol. 2004;150:425–30.CrossRefPubMed
113.
Adams M, Nagaya T, Tone Y, Jameson JL, Chatterjee VK. Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. Clin Endocrinol (Oxf). 1992;36:281–9.CrossRefPubMed
114.
Takeda K, Balzano S, Sakurai A, DeGroot LJ, Refetoff S. Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. J Clin Invest. 1991;87:496–502.CrossRefPubMedPubMedCentral
115.
Takeda K, Weiss RE, Refetoff S. Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 1992;74:712–9.CrossRefPubMed
116.
Macchia E, Gurnell M, Agostini M, Giorgilli G, Marcocci C, Valenti TM, Martino E, Chatterjee KK, Pinchera A. Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor beta gene in a family with generalized thyroid hormone resistance. Eur J Endocrinol. 1997;137:370–6.CrossRefPubMed
117.
Sivakumar T, Chaidarun S. Resistance to thyroid hormone in a patient with coexisting Graves’ disease. Thyroid. 2010;20:213–6.CrossRefPubMed
118.
Sato H, Koike Y, Honma M, Yagame M, Ito K. Evaluation of thyroid hormone action in a case of generalized resistance to thyroid hormone with chronic thyroiditis: discovery of a novel heterozygous missense mutation (G347A). Endocr J. 2007;54:727–32.CrossRefPubMed
119.
Seto D, Weintraub BD. Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations. Hum Mutat. 1996;8:247–57.CrossRefPubMed
120.
Işık E, Beck Peccoz P, Campi I, Özön A, Alikaşifoğlu A, Gönç N, Kandemir N. Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report. Turk J Pediatr. 2013;55:322–7.PubMed
121.
Guran T, Bircan R, Turan S, Bereket A. Alopecia: association with resistance to thyroid hormones. J Pediatr Endocrinol Metab. 2009;22:1075–81.PubMed
122.
123.
Clifton-Bligh RJ, de Zegher F, Wagner RL, Collingwood TN, Francois I, Van Helvoirt M, Fletterick RJ, Chatterjee VK. A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. Mol Endocrinol. 1998;12:609–21.PubMed
124.
Menzaghi C, Di Paola R, Corrias A, Einaudi S, Trischitta V, De Sanctis C, De Filippis V. T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Hum Mutat. 1998;12:289.PubMed
125.
Catargi B, Monsaingeon M, Bex-Bachellerie V, Ronci-Chaix N, Trouette H, Margotat A, Tabarin A, Beck-Peccoz P. A novel thyroid hormone receptor-beta mutation, not anticipated to occur in resistance to thyroid hormone, causes variable phenotypes. Horm Res. 2002;57:137–42.PubMed
126.
Ferreira Azevedo M, Barra GB, Medeiros LD, Simeoni LA, Naves LA, Neves Fde A. A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome. Arq Bras Endocrinol Metabol. 2008;52:1304–12.CrossRefPubMed
127.
Rivolta CM, Gil MS, Ballarino C, Ridruejo MC, Miguel CM, Gimenez SB, Bernacchi SS, Targovnik HM. A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone. Mol Diagn. 2004;8:163–9.PubMed
128.
Behr M, Ramsden DB, Loos U. Deoxyribonucleic acid binding and transcriptional silencing by a truncated c-erbA beta 1 thyroid hormone receptor identified in a severely retarded patient with resistance to thyroid hormone. J Clin Endocrinol Metab. 1997;82:1081–7.PubMed
129.
Ho CW, Chan RM, Lim YY, Loke KY, Lee YS. Thyroid hormone resistance due to a novel THRß mutation. Ann Acad Med Singapore. 2014;43:241–3.PubMed
130.
Tsukaguchi H, Yoshimasa Y, Fujimoto K, Ishii H, Yamamoto T, Yoshimasa T, Yagura T, Takamatsu J. Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone: two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance. J Clin Endocrinol Metab. 1995;80:3613–6.CrossRefPubMed
131.
Wu SY, Cohen RN, Simsek E, Senses DA, Yar NE, Grasberger H, Noel J, Refetoff S, Weiss RE. A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone. J Clin Endocrinol Metab. 2006;91:1887–95.CrossRefPubMed
132.
Phillips SA, Rotman-Pikielny P, Lazar J, Ando S, Hauser P, Skarulis MC, Brucker-Davis F, Yen PM. Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant. J Clin Endocrinol Metab. 2001;86:5142–7.CrossRefPubMed
133.
Boothroyd CV, Teh BT, Hayward NK, Hickman PE, Ward GJ, Cameron DP. Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis. Biochem Biophys Res Commun. 1991;178:606–12.CrossRefPubMed
134.
Bayer Y, Fasshauer M, Paschke R. The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: a case report. Exp Clin Endocrinol Diabetes. 2004;112:95–7.CrossRefPubMed
135.
Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Tanaka K, Imura H. A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. Mol Cell Endocrinol. 1992;84:159–66.CrossRefPubMed
136.
Canadas KT, Rivkees SA, Udelsman R, Breuer CK. Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female. Int J Pediatr Endocrinol. 2011;2011:3.CrossRefPubMedPubMedCentral
137.
Weiss RE, Chyna B, Duell PB, Hayashi Y, Sunthornthepvarakul T, Refetoff S. A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab. 1994;78:1253–6.PubMed
138.
Groenhout EG, Dorin RI. Generalized thyroid hormone resistance due to a deletion of the carboxy terminus of the c-erbA beta receptor. Mol Cell Endocrinol. 1994;99:81–8.CrossRefPubMed
139.
Taniyama M, Kusano S, Miyoshi Y, Nakamura H, Kaihara M, Tobe T, Tomita M, Katagiri T, Ban Y. Mild resistance to thyroid hormone with a truncated thyroid hormone receptor beta. Exp Clin Endocrinol Diabetes. 1996;104:339–43.CrossRefPubMed
140.
Maruo Y, Mori A, Morioka Y, Sawai C, Mimura Y, Matui K, Takeuchi Y. Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report. BMC Endocr Disord. 2016;16:1.CrossRefPubMedPubMedCentral
141.
Mixson AJ, Parrilla R, Ransom SC, Wiggs EA, McClaskey JH, Hauser P, Weintraub BD. Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations. J Clin Endocrinol Metab. 1992;75:1039–45.PubMed
142.
Florkowski CM, Brownlie BE, Croxson MS, Manning P, Farrand S, Smith G, Potter HC, George PM. Thyroid hormone resistance: the role of mutational analysis. Intern Med J. 2006;36:738–41.CrossRefPubMed
143.
Miyoshi Y, Nakamura H, Sasaki S, Tagami T, Misaki T, Konishi J, Nakao K. Two consecutive nucleotide substitutions resulting in the T3 receptor beta gene resulting in an 11-amino acid truncation in a patient with generalized resistance to thyroid hormone. Mol Cell Endocrinol. 1995;114:9–17.CrossRefPubMed
144.
Igata M, Tsuruzoe K, Kawashima J, Kukidome D, Kondo T, Motoshima H, et al. Coexistence of resistance to thyroid hormone and papillary thyroid carcinoma. Endocrinol Diabetes Metab Case Rep. 2016;2016:160003.PubMedPubMedCentral
145.
Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance Molecular heterogeneity in two other kindreds. J Clin Invest. 1990;85:93–100.CrossRefPubMedPubMedCentral
146.
Collingwood TN, Rajanayagam O, Adams M, Wagner R, Cavaillès V, Kalkhoven E, Matthews C, Nystrom E, Stenlof K, Lindstedt G, Tisell L, Fletterick RJ, Parker MG, Chatterjee VK. A natural transactivation mutation in the thyroid hormone beta receptor: impaired interaction with putative transcriptional mediators. Proc Natl Acad Sci USA. 1997;94:248–53.CrossRefPubMed
147.
Tagami T, Gu WX, Peairs PT, West BL, Jameson JL. A novel natural mutation in the thyroid hormone receptor defines a dual functional domain that exchanges nuclear receptor corepressors and coactivators. Mol Endocrinol. 1998;12:1888–902.CrossRefPubMed
148.
Torre P, Bertoli M, Di Giovanni S, Scommegna S, Conte C, Novelli G, Cianfarani S. Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy. J Endocrinol Invest. 2005;28:657–62.CrossRefPubMed
149.
Ishii S, Yamada M, Satoh T, Monden T, Hashimoto K, Shibusawa N, Onigata K, Onigata K, Morikawa A, Mori M. Aberrant dynamics of histone deacetylation at the thyrotropin-releasing hormone gene in resistance to thyroid hormone. Mol Endocrinol. 2004;18:1708–20.CrossRefPubMed
150.
van der Hoek YY, Mul-Steinbusch MW, Slee PH. A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone. Hum Mutat. 2000;16:375.CrossRefPubMed
151.
Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab. 2005;90:1760–7.CrossRefPubMed
152.
Weiss RE, Tunca H, Gerstein HC, Refetoff S. A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid. 1996;6:311–2.CrossRefPubMed
153.
Guran T, Turan S, Bircan R, Bereket A. 9 years follow-up of a patient with pituitary form of resistance to thyroid hormones (PRTH): comparison of two treatment periods of D-thyroxine and triiodothyroacetic acid (TRIAC). J Pediatr Endocrinol Metab. 2009;22:971–8.PubMed
Metadaten
Titel
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)
verfasst von
Paola Concolino
Alessandra Costella
Rosa Maria Paragliola
Publikationsdatum
01.06.2019
Verlag
Springer International Publishing
Erschienen in
Molecular Diagnosis & Therapy / Ausgabe 3/2019
Print ISSN: 1177-1062
Elektronische ISSN: 1179-2000
DOI
https://doi.org/10.1007/s40291-019-00399-w

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