Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). In most cases, the disorder is associated with germline pathogenic variants in the thyroid hormone receptor beta (THRB) gene. This paper summarizes the clinical and biochemical presentation of the disease, providing a comprehensive overview on molecular genetic features. Particular care is given in reporting all identified THRB variants with an assessed or unknown clinical significance. Our aim is to offer a useful tool for clinical and genetic specialists in order to ease clinical diagnosis and genetic counseling.
Concolino, P., Costella, A., Paragliola, R. M., Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ), <<MOLECULAR DIAGNOSIS & THERAPY>>, 2019; 23 (3): 353-368. [doi:10.1007/s40291-019-00399-w] [http://hdl.handle.net/10807/153181]
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)
Paragliola, Rosa MariaUltimo
Writing – Original Draft Preparation
2019
Abstract
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). In most cases, the disorder is associated with germline pathogenic variants in the thyroid hormone receptor beta (THRB) gene. This paper summarizes the clinical and biochemical presentation of the disease, providing a comprehensive overview on molecular genetic features. Particular care is given in reporting all identified THRB variants with an assessed or unknown clinical significance. Our aim is to offer a useful tool for clinical and genetic specialists in order to ease clinical diagnosis and genetic counseling.
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