Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene

Thyroid

Volumn 7, Issue 1, 1997, Pages 39-41

  Pohlenz, Joachim ^a,c   Wildhardt, Gabi ^a   Zabel, Bernhard ^a   Willgerodt, Helmut ^b  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; LEUCINE; RECEPTOR PROTEIN; SERINE; THYMIDINE; THYROID HORMONE; THYROID HORMONE RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; BETA CHAIN; CASE REPORT; CHILD; HUMAN; HYPERTHYROIDISM; HYPOTHYROIDISM; MALE; POINT MUTATION; PRIORITY JOURNAL; THYROID HORMONE RESISTANCE; THYROTOXICOSIS;

EID: 0030986999     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.1997.7.39     Document Type: Article

References (9)

1. Refetoff S, Weiss RE, Usala SJ 1993 The syndromes of resistance to thyroid hormone. Endocr Rev 14:348-399.
2. Usala SJ, Bale AE, Gesundheit N, et al. 1988. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA-β gene. Mol Endocrinol 2:1217-1220.
3. 3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone. J Clin Invest 94:607-615.
4. Sasaki S, Nakamura H, Tagami T, et al. 1993 Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3′triiodothyronine receptor-β. J Clin Endocrinol Metab 76:1254-1258.
5. Pohlenz J, Schonberger W, Wemme H, et al. 1996 New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone. Hum Mutat 7:79-81.
6. Usala SJ, Menke JB, Hao EH, et al. 1992 Mutations in the c-erbA beta gene in two different patients with selective pituitary resistance to thyroid hormones. 74th Annual Meeting of the Endocrine Society, San Antonio, TX, 1992:135 Abstract 335.
7. Refetoff S and Weiss RE 1996 Resistance to thyroid hormone. In: Thakker TV (ed) Genetics of Endocrine and Metabolic Disorders. Chapman & Hill, London (in press).
8. Beck-Peccoz P, Chatterjee VK, Chin WW, de Groot LJ, Jameson JL, Nakamura H, et al. 1994 Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: Consensus statement from the first workshop on thyroid hormone resistance. July 10-11,1993, Cambridge, United Kingdom. J Clin Endocrinol Metab 78:990-993.
9. Weiss RE, Marcocci C, Bruno Bossio-G, Refetoff S 1993 Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab 76:257-259.