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
收藏
页码：353 / 368
页数：16
相关论文
共 50 条
  • [31] Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation
    Lai, Huei-Pin
    Chen, Mei-Hsiu
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (23)
  • [32] Thyroid hormone-regulated chromatin landscape and transcriptional sensitivity of the pituitary gland
    Cho, Young-Wook
    Fu, Yulong
    Huang, Chen-Che Jeff
    Wu, Xuefeng
    Ng, Lily
    Kelley, Kevin A.
    Vella, Kristen R.
    Berg, Anders H.
    Hollenberg, Anthony N.
    Liu, Hong
    Forrest, Douglas
    COMMUNICATIONS BIOLOGY, 2023, 6 (01)
  • [33] A POINT MUTATION OF THE T3 RECEPTOR-BETA-1 GENE IN A KINDRED OF GENERALIZED RESISTANCE TO THYROID-HORMONE
    SASAKI, S
    NAKAMURA, H
    TAGAMI, T
    MIYOSHI, Y
    TANAKA, K
    IMURA, H
    MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1992, 84 (03) : 159 - 166
  • [34] Thyroid Profiles in a Patient with Resistance to Thyroid Hormone and Episodes of Thyrotoxicosis, Including Repeated Painless Thyroiditis
    Taniyama, Matsuo
    Otsuka, Fumiko
    Tozaki, Teruaki
    Ban, Yoshiyuki
    THYROID, 2013, 23 (07) : 897 - 900
  • [35] Incidental Identification of a Thyroid Hormone Receptor Beta (THRB) Gene Variant in a Family with Autoimmune Thyroid Disease
    Larsen, Caecilie C.
    Dumitrescu, Alexandra
    Guerra-Argueero, Laura M.
    Gallego-Suarez, Cecillia
    Vazquez-Mellado, Alberto
    Vinogradova, Maia
    Fletterick, Robert
    Refetoff, Samuel
    Weiss, Roy E.
    THYROID, 2013, 23 (12) : 1638 - 1643
  • [36] Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report
    Maruo, Yoshihiro
    Mori, Asami
    Morioka, Yoriko
    Sawai, Chihiro
    Mimura, Yu
    Matui, Katsuyuki
    Takeuchi, Yoshihiro
    BMC ENDOCRINE DISORDERS, 2016, 16
  • [37] A Mechanism for Pituitary-Resistance to Thyroid Hormone (PRTH) Syndrome: a Loss in Cooperative Coactivator Contacts by Thyroid Hormone Receptor (TR)β2
    Lee, Sangho
    Young, Briana M.
    Wan, Wei
    Chan, Ivan H.
    Privalsky, Martin L.
    MOLECULAR ENDOCRINOLOGY, 2011, 25 (07) : 1111 - 1125
  • [38] Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment
    de Oliveira, Alexandre Machado Silva
    Motti, Viviane
    Casemiro, Jessica
    Rende, Pedro Resende
    de Andrade, Caio Leonidas Oliveira
    Fernande, Luciene da Cruz
    Ramos, Helton Estrela
    ARCHIVES OF ENDOCRINOLOGY METABOLISM, 2025, 69 (01):
  • [39] The Clinical and Genetic Diversity of Thyroid Hormone Resistance: Four Clinical Vignettes
    Deeb, Asma
    Kadam, Rochita Rajesh
    El-Kebbi, Imad Mohamad
    HORMONE RESEARCH IN PAEDIATRICS, 2024,
  • [40] Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor β gene
    Rivolta, Carina M.
    Olcese, Maria C.
    Belforte, Fiorella S.
    Chiesa, Ana
    Gruneiro-Papendieck, Laura
    Iorcansky, Sonia
    Herzovich, Viviana
    Cassorla, Fernando
    Gauna, Alicia
    Gonzalez-Sarmiento, Rogelio
    Targovnik, Hector M.
    MOLECULAR AND CELLULAR PROBES, 2009, 23 (3-4) : 148 - 153
12345