Periodically hyperthyroid phenotype in thyroid hormone resistance is associated with mutation D322N in the thyroid hormone receptor beta gene: transcriptional properties of the mutant and the role of retinoid X receptor.

Abstract excerpt

We report a point mutation in the ligand-binding domain of the TR beta 1 gene in an affected patient and his daughter. The phenotype was borderline hyperthyroid with periodic aggravation of symptoms. In the cognate variant TR beta (TR beta-CN) amino acid codon 322 was exchanged from aspartic acid...

Topics

• Adult
• Child, Preschool
• Codon
• Humans
• Hyperthyroidism
• Male
• Phenotype
• Point Mutation
• Receptors, Retinoic Acid
• Receptors, Thyroid Hormone
• Retinoid X Receptors