Phenotypic variability in patients with generalised resistance to thyroid hormone

J Med Genet. 1995 May;32(5):393-5. doi: 10.1136/jmg.32.5.393.


Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Point Mutation / genetics
  • Receptors, Thyroid Hormone / chemistry
  • Receptors, Thyroid Hormone / genetics*
  • Thyroid Function Tests
  • Thyroid Hormone Resistance Syndrome / genetics*
  • Thyroid Hormones / blood


  • Receptors, Thyroid Hormone
  • Thyroid Hormones