Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone

Clinical Endocrinology

Volumn 67, Issue 5, 2007, Pages 748-753

  Magalhães, Patricia Künzle Ribeiro ^a   Rodrigues Dare, Gustavo Leopoldo ^a   Rodrigues Dos Santos, Sandra ^a   Nogueira, Celia Regina ^b   De Castro, Margaret ^a   Zanini Maciel, Lea Maria ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

IODINE 131; LIOTRIX; PROPYLTHIOURACIL; THIAMAZOLE; THYROID HORMONE RECEPTOR BETA;

ARTICLE; BRAZIL; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ETHNIC DIFFERENCE; EUTHYROID SICK SYNDROME; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GOITER; GRAVES DISEASE; HORMONE SENSITIVITY; HUMAN; HYPERTHYROIDISM; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TACHYCARDIA; THYROID HORMONE BLOOD LEVEL; THYROID HORMONE RESISTANCE;

ADOLESCENT; ADULT; BRAZIL; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENETIC SCREENING; GENOTYPE; GOITER; HEART RATE; HUMANS; INFANT; INTELLIGENCE; MALE; PHENOTYPE; POINT MUTATION; THYROID HORMONE RECEPTORS BETA; THYROID HORMONE RESISTANCE SYNDROME; THYROID HORMONES;

EID: 35449001613     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02956.x     Document Type: Article

References (25)

1. Refetoff, S., Weiss, R.E. Usala, S.J. (1993) The syndromes of resistance to thyroid hormone. Endocrine Reviews, 14, 348 399.
2. Brucker-Davis, F., Skarulis, M.C., Grace, M.B., Benichou, J., Hauser, P., Wiggs, E. Weintraub, B.D. (1995) Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. Annals of Internal Medicine, 123, 572 583.
3. Parrilla, R., Mixson, A.J., McPherson, J.A., McClaskey, J.H. Weintraub, B.D. (1991) 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. Journal of Clinical Investigation, 88, 2123 2130.
4. Collingwood, T.N., Wagner, R., Matthews, C.H., Clifton-Bligh, R.J., Gurnel, M., Rajanayagam, O., Agostini, M., Fletterick, R.J., Beck-Peccoz, P., Reinhardt, W., Binder, G., Ranke, M.B., Hermus, A., Hesch, R.D., Lazarus, J., Newrick, P., Parfitt, V., Raggatt, P., de Zegher, F. Chatterjee, V.K. (1998) 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 Journal, 17, 4760 4770.
5. Jameson, J. (1994) Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone. Thyroid, 4, 485 492.
6. Weiss, R.E., Hayashi, Y., Nagaya, T., Petty, K.J., Murata, Y., Tunka, H., Seo, H. Refetoff, S. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptors α or β genes may be due to defective co-factor. Journal of Clinical Endocrinology and Metabolism, 81, 4196 4203.
7. Cheng, S.Y. (2005) Isoform-dependent actions of thyroid hormone nuclear receptors: lessons from knockin mutant mice. Steroids, 70, 450 454.
8. Reutrakul, S., Sadow, P.M., Pannain, S., Pohlenz, J., Carvalho, G.A., Macchia, P.E., Weiss, R.E. Refetoff, S. (2000) Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. Journal of Clinical Endocrinology and Metabolism, 85, 3609 3617.
9. Florkowski, C.M., Brownlie, B.E., Croxson, M.S., Manning, P., Farrand, S., Smith, G., Potter, H.C. George, P.M. (2006) Thyroid hormone resistance: the role of mutational analysis. Internal Medicine Journal, 36, 738 741.
10. Adams, M., Matthews, C., Collinwood, T.N., Tone, Y., Beck-Peccoz, P. Chatterjee, K.K. (1994) Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Journal of Clinical Investigation, 94, 506 515.
11. Takeda, K., Weiss, R.E. Refetoff, S. (1992) Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. Journal of Clinical Endocrinology and Metabolism, 74, 712 719.
12. Furlanetto, T.W., Kopp, P., Peccin, S., Gu, W.X. Jameson, J.L. (2000) A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate. Molecular Genetics and Metabolism, 71, 520 526.
13. Hauser, P., Soler, R., Brucker-Davis, F. Weintraub, B.D. (1997) Thyroid hormones correlate with symptoms of hyperactivity but not inattention in attention deficit hyperactivity disorder. Psychoneuroendocrinology, 22, 107 114.
14. Suzuki, H. Cheng, S.Y. (2003) Compensatory role of thyroid hormone receptor (TR) alpha 1 in resistance to thyroid hormone: study in mice with a targeted mutation in the TR beta gene and deficient in TR alpha 1. Molecular Endocrinology, 17, 1647 1655.
15. Boorthoyd, C.V., the, B.T., Hayward, N.K., Hickman, P.E., Ward, G.J. Cameron, D.P. (1991) 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. Biochemical and Biophysical Research Communications, 178, 606 612.
16. Usala, S.J., Tennyson, G.E., Bale, A.E., Lash, R.W., Gesundheit, N., Wondisford, F.E., Accili, D., Hauser, P. Weintraub, B.D. (1990) 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. Journal of Clinical Investigation, 85, 93 100.
17. Shuto, Y., Wakabayashi, I., Amuro, N., Minami, S. Okazaki, T. (1992) A point mutation in the 3,5,3′-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone. Journal of Clinical Endocrinology and Metabolism, 75, 213 217.
18. Ishay, A., Dumitrescu, A., Luboshitzky, R., Rakover, Y. Refetoff, S. (2003) A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid, 13, 409 412.
19. Wu, S.Y., Sadow, P.M., Refetoff, S. Weiss, R.E. (2005) Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T). Journal of Laboratory and Clinical Medicine, 146, 85 94.
20. Refetoff, S. (2005) Resistance to thyroid hormone. In : L.E. Braerman, R.E. Utiger, eds. Wener and Ingbar's The Thyroid: A Fundamental and Clinical Text, 9th edn. Lippincott, Willians and Wilkins, Philadelphia, PA, 1109 1129.
21. Takeda, K., Sakurai, A., De Groot, L.J. Refetoff, S. (1992) Recessive inheritance of thyroid hormone resistance by complete deletion of the protein-coding region of the thyroid receptor-beta gene. Journal of Clinical Endocrinology and Metabolism, 74, 49 55.
22. Weiss, R.E., Marcocci, C., Bruno-Bossio, G. Refetoff, S. (1993) Multiple genetic factors in the heterogeneity of thyroid hormone resistance. Journal of Clinical Endocrinology and Metabolism, 76, 257 259.
23. Yoh, S.M., Chatterjee, V.K. Privalsky, M.L. (1997) Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors. Molecular Endocrinology, 11, 470 480.
24. Furuya, F., Ying, H., Zhao, L. Cheng, S.Y. (2007) Novel functions of thyroid hormone receptor mutants: beyond nucleus-initiated transcription. Steroids, 72, 171 179.
25. Mixson, A.J., Hauser, P., Tennyson, G., Renault, J.C., Bodenner, D.L. Weintraub, B.D. (1993) Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. Journal of Clinical Investigation, 91, 2296 2300.