Article
A novel thyroid hormone receptor-beta mutation, not anticipated to occur in resistance to thyroid hormone, causes variable phenotypes.
Hormone research - 1 Jan 2002
Catargi B, Monsaingeon M, Bex-Bachellerie V, Ronci-Chaix N, Trouette H, Margotat A, Tabarin A, Beck-Peccoz P
Abstract excerpt
Resistance to thyroid hormones (RTH) is a syndrome characterized by a variable tissue hyposensitivity to thyroid hormones and is linked to mutations in the thyroid hormone receptor-beta (TRbeta) gene. We report here for the first time in vivo the mutation R429W (CCG-->TCG) located in the exon 10. The artificial mutant obtained in vitro displayed a normal T(3)-binding affinity and transactivation function....
Topics
- Adult
- Alkaline Phosphatase
- Amino Acid Substitution
- Bone Density
- Cholesterol
- Creatine Kinase
- Exons
- Female
- Ferritins
- Humans
- Hydroxyproline
- Male
- Mutation
- Pedigree