Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)

Paola Concolino; Alessandra Costella; Rosa Maria Paragliola

doi:10.1007/s40291-019-00399-w

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)

Paola Concolino, Alessandra Costella, Rosa Maria Paragliola

Università Cattolica del Sacro Cuore

Risultato della ricerca: Contributo in rivista › Articolo in rivista

8 Citazioni (Scopus)

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.

Lingua originale	English
pagine (da-a)	353-368
Numero di pagine	16
Rivista	MOLECULAR DIAGNOSIS & THERAPY
Volume	23
DOI	https://doi.org/10.1007/s40291-019-00399-w
Stato di pubblicazione	Pubblicato - 2019

Keywords

Animals
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genotype
Humans
Mutation
Phenotype
Thyroid Hormone Receptors beta
Thyroid Hormone Resistance Syndrome
Thyroid Hormones

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10.1007/s40291-019-00399-w

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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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year = "2019",

doi = "10.1007/s40291-019-00399-w",

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AU - Costella, Alessandra

AU - Paragliola, Rosa Maria

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Y1 - 2019

N2 - 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.

AB - 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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KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Genotype

KW - Humans

KW - Mutation

KW - Phenotype

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KW - Thyroid Hormone Resistance Syndrome

KW - Thyroid Hormones

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KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Genotype

KW - Humans

KW - Mutation

KW - Phenotype

KW - Thyroid Hormone Receptors beta

KW - Thyroid Hormone Resistance Syndrome

KW - Thyroid Hormones

UR - http://hdl.handle.net/10807/153181

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JO - MOLECULAR DIAGNOSIS & THERAPY

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ER -

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)

Abstract

Keywords

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