Mutational Landscape of Resistance to Thyroid Hormone Beta (RTH)

被引：17

作者：

Concolino, Paola ^{[1
]}

Costella, Alessandra ^{[1
]}

Paragliola, Rosa Maria ^{[2
]}

机构：

[1] Fdn Policlin Univ A Gemelli IRCCS, Largo A Gemelli 8, I-00168 Rome, Italy

[2] Univ Cattolica Sacro Cuore, Rome, Italy

来源：

MOLECULAR DIAGNOSIS & THERAPY | 2019年 / 23卷 / 03期

关键词：

DE-NOVO MUTATION; IMPAIRS COREPRESSOR RELEASE; RECEPTOR-BETA; GENERALIZED RESISTANCE; POINT MUTATION; MISSENSE MUTATION; MILD RESISTANCE; BINDING DOMAIN; LIGAND-BINDING; DIFFERENTIAL-DIAGNOSIS;

D O I：

10.1007/s40291-019-00399-w

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Resistance to thyroid hormone beta (RTH) 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.

引用

页码：353 / 368

页数：16

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