Restricted accessBrief reportFirst published online 2019-3
A Novel Thyroid Hormone Receptor Beta Mutation (G357R) in a Family with Resistance to Thyroid Hormone Beta: Extending the Borders of the “Hot” Region in the THRB Gene
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by high serum levels of thyroid hormone and unsuppressed serum thyrotropin concentrations. RTHβ is caused by mutations in the thyroid hormone receptor beta (THRB) gene, which are mostly clustered in three “hot” regions along the gene. Here, a report is given on a family with RTHβ caused by a novel mutation in the THRB gene (c.1069 G>C, p.G357R) occurring outside the historically known “hot” regions.
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References
1.
RefetoffS, BassettJHD, Beck-PeccozP, BernalJ, BrentG, ChatterjeeK, De GrootLJ, DumitrescuAM, JamesonJL, KoppPA, MurataY, PersaniL, SamarutJ, WeissRE, WilliamsGR, YenPM. 2014. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J, 3:7–9.
2.
DumitrescuAM, RefetoffS. 2000 Impaired sensitivity to thyroid hormone: defects of transport, metabolism and Action. In: De GrootLJ, ChrousosG, DunganK, et al. (eds) Endotext. MDText.com, Inc., South Dartmouth, MA.
3.
LarsenCC, DumitrescuA, Guerra-ArgüeroLM, Gállego-SuárezC, Vazquez-MelladoA, VinogradovaM, FletterickR, RefetoffS, WeissRE. 2013. Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease. Thyroid, 23:1638–1643.
4.
YohSM, ChatterjeeVK, PrivalskyML. 1997. Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors. Mol Endocrinol, 11:470–480.
5.
TogashiM, NguyenP, FletterickR, BaxterJD, WebbP. 2005. Rearrangements in thyroid hormone receptor charge clusters that stabilize bound 3,5′,5-triiodo-L-thyronine and inhibit homodimer formation. J Biol Chem, 280:25665–73.
6.
GroenewegS, PeetersRP, VisserTJ, VisserWE. 2017. Triiodothyroacetic acid in health and disease. J Endocrinol, 234:R99–R121.
