Heterozygous mutations in thyroid hormone receptor-beta (TRbeta) gene are the cause of resistance to thyroid hormone (RTH) in more than 85% of families having the syndrome.
Most patients with the syndrome resistance to thyroid hormone (RTH) express a mutant thyroid hormone receptor beta (TRbeta) with transdominant negative transcriptional effects.
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.