A New Point Mutation (M313T) in the Thyroid Hormone Receptor β Gene in a Patient with Resistance to Thyroid Hormone

Abstract

Sequence analysis of the TRβ gene from a patient with the syndrome of resistance to thyroid hormone revealed a novel missense mutation in exon 9, changing thymidine in position 1123 to cytosine. The corresponding amino acid alteration is a substitution of a methionine (ATG) for a threonine (ACG) at codon 313 being the patient heterozygous for the mutation. In contrast, his parents had only the wild-type sequence, suggesting a de novo mutational event.