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Phenotypic variability in patients with generalised resistance to thyroid hormone
J Pohlenz1, S Wirth, A Winterpacht
1Children's Hospital of the Johannes-Gutenberg-University, Mainz, Germany.
Journal of Medical Genetics
|May 1, 1995
Summary
Generalized resistance to thyroid hormone (GRTH) is linked to the thyroid receptor beta 1 gene. A novel mutation in one family suggests genetic factors contribute to varied GRTH phenotypes.
Area of Science:
- Endocrinology
- Human Genetics
- Molecular Biology
Background:
- Generalized resistance to thyroid hormone (GRTH) is a rare genetic disorder.
- It is characterized by reduced sensitivity of target tissues to thyroid hormones.
- The condition is primarily linked to mutations in the thyroid receptor beta 1 (TR$eta$1) gene.
Observation:
- A family with GRTH was studied.
- A specific mutation was identified: an adenine for guanine substitution at nucleotide 1234.
- This results in an alanine to threonine substitution at codon 317 in exon 9 of the TR$eta$1 gene.
Findings:
- The identified mutation (A1234G) is a novel finding in this family.
- This specific mutation has been previously associated with different GRTH phenotypes.
- The study confirms the genetic linkage of GRTH to the TR$eta$1 gene.
Implications:
- The findings highlight the genetic heterogeneity of GRTH.
- This suggests that additional genetic factors may modulate the phenotype in GRTH patients.
- Understanding these factors is crucial for accurate diagnosis and personalized treatment strategies.