Mutation in the Thyroid Hormone Receptor β Gene (A317T) in a Thai Subject with Resistance to Thyroid Hormone

Analysis of the thyroid hormone receptor β (TRβ) gene of a Thai female with the syndrome of resistance to thyroid hormone (RTH) revealed a missense mutation at codon 317, changing the guanine in nucleotide 1234 to an adenine that results in the replacement of the normal alanine (GCT) with a threonine (ACT). The proposita was heterozygous, and this mutation was not present in her parents and her sister, compatible with a neomutation. This is the first report of TRβ gene mutation causing RTH in an individual of Thai origin.