Three new mutations of thyroid hormone receptor-{beta} associated with resistance to thyroid hormone
Journal Article
·
· Journal of Clinical Endocrinology and Metabolism
- Catholic Univ., Rome (Italy)
Three novel point mutations at nucleotides 1249, 1282, and 1614 (exons 9 and 10) of the human thyroid hormone receptor-{beta} gene were observed in six individuals affected by the syndrome of resistance to thyroid hormone. All three mutations occurred in a heterozygous pattern and caused the following changes in the mature form of the receptor protein: Asp{sup 322} to Asn, Glu{sup 333} to Gln, and Lys{sup 443} to Asn, respectively. The first and third point mutations arose in two unrelated families from eastern Sicily, whereas the second concerned an individual from southern Calabria, apparently presenting a sporadic form of the resistance syndrome. The clinical and biochemical features of resistance to thyroid hormone, both before and after the administration of thyroid hormones, highlight the striking intrafamilial heterogeneity in the phenotypical presentation of the syndrome. 7 refs., 3 figs., 1 tab.
- OSTI ID:
- 54492
- Journal Information:
- Journal of Clinical Endocrinology and Metabolism, Journal Name: Journal of Clinical Endocrinology and Metabolism Journal Issue: 1 Vol. 79; ISSN JCEMAZ; ISSN 0021-972X
- Country of Publication:
- United States
- Language:
- English
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