MUTATION IN THE THYROID-HORMONE RECEPTOR-BETA GENE (A317T) IN A THAI SUBJECT WITH RESISTANCE TO THYROID-HORMONE

Authors
SUNTHORNTHEPVARAKUL T ANGSUSINGHA K LIKITMASKUL S NGOWNGARMRATANA S REFETOFF S
Citation
T. Sunthornthepvarakul et al., MUTATION IN THE THYROID-HORMONE RECEPTOR-BETA GENE (A317T) IN A THAI SUBJECT WITH RESISTANCE TO THYROID-HORMONE, Thyroid, 7(6), 1997, pp. 905-907
Citations number
11
Journal title
Thyroid → ACNP
ISSN journal
10507256
Volume
7
Issue
6
Year of publication
1997
Pages
905 - 907
Database
ISI
SICI code
1050-7256(1997)7:6<905:MITTRG>2.0.ZU;2-6
Abstract
Analysis of the thyroid hormone receptor beta (TR beta) gene of a Thai female with the syndrome of resistance to thyroid hormone (RTH) revea led a missense mutation at codon 317, changing the guanine in nucleoti de 1234 to an adenine that results in the replacement of the normal al anine (GCT) with a threonine (ACT). The proposita was heterozygous, an d this mutation was not present in her parents and her sister, compati ble with a neomutation. This is the first report of TR beta gene mutat ion causing RTH in an individual of Thai origin.