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Cited by 17Thyroid Disorders and TreatmentsGenomics and Rare DiseasesGrowth Hormone and Insulin-like Growth Factors

TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone

Vlaeminck-Guillem, Virginie, Espiard, Stéphanie, Flamant, Frédéric, Wémeau, Jean-Louis·2015·La Presse Médicale
DOI 10.1016/j.lpm.2015.07.022
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Abstract

Since 2012, eight different abnormalities have been described in the THRA gene (encoding the TRα1 thyroid hormone receptor) of 14 patients from 9 families. These mutations induce a clinical phenotype (resistance to thyroid hormone type α) associating symptoms of untreated mild congenital hypothyroidism and a near-normal range of free and total thyroid hormones and TSH (the T4/T3 ratio is nevertheless usually low). The phenotype can diversely include short stature (due to growth retardation), dysmorphic syndrome (face and limb extremities), psychoneuromotor disorders, constipation and bradycardia. The identified genetic abnormalities are located within the ligand-binding domain and result in defective T3 binding, an abnormally strong interaction with corepressors and a dominant negative activity against still functional receptors. The identification of patients with consistent phenotypes and the underlying mutations are warranted to better delineate the spectrum of the syndromes of reduced sensitivity to thyroid hormone.

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Crossref · 10.1016/j.lpm.2015.07.022

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  • The TRα1N359Y mutant protein had impaired T3 binding and transactivation function with moderate dominant-negative activity.

    “The TRα1N359Y mutant protein had impaired T3 binding and transactivation function with moderate dominant-negative activity, while no clear functional abnormality of the TRα2N359Y mutant was identified [68, 79].”

    From Thyroid diseases and bone health (2018) · cites this paper as [79]

  • No clear functional abnormality of the TRα2N359Y mutant was identified.

    “The TRα1N359Y mutant protein had impaired T3 binding and transactivation function with moderate dominant-negative activity, while no clear functional abnormality of the TRα2N359Y mutant was identified [68, 79].”

    From Thyroid diseases and bone health (2018) · cites this paper as [79]

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Authors
Vlaeminck-Guillem, V., Espiard, S., Flamant, F., & Wémeau, J.-L.
Affiliations
  • Centre Hospitalier Universitaire de Lille (FR)
  • Lyon 1 Université (FR)
ORCID
Venue
La Presse Médicale
Publisher
Elsevier BV
Published
2015-11
Volume
44
Issue
11
Pages
1103-1112
ISSN
  • 0032-7867 (ISSN-L)
  • 0755-4982
DOI
10.1016/j.lpm.2015.07.022
OpenAlex
W2248453052
Cited by
17
References
4
Citations by year
2026: 1 · 2025: 1 · 2024: 3 · 2022: 2 · 2019: 3 · 2018: 3 · 2017: 2 · 2016: 1 · 2015: 1
FWCI
0.35
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • La Presse Médicale (publishedVersion)
  • PubMed (publishedVersion)
  • HAL (submittedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
Keywords
congenital hypothyroidism, short stature, dysmorphic syndromes, bradycardia, dominant negative effect, ligand-binding domain, T4/T3 ratio
MeSH terms
Abnormalities, Multiple, Adolescent, Adult, Bradycardia, Child, Dwarfism, Female, Genes, Dominant, Genotype, Humans, Hyperlipoproteinemia Type II, Male, Middle Aged, Phenotype, Psychomotor Disorders, Thyroid Hormones, Thyrotropin, Triiodothyronine, Frameshift Mutation, Point Mutation, Age of Onset, Thyroid Hormone Resistance Syndrome, Codon, Nonsense, Mutation, Missense, Thyroid Hormone Receptors alpha, Young Adult

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