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

被引：3
|
作者：
Censi, Simona [1 ]
Barollo, Susi [1 ]
Watutantrige-Fernando, Sara [1 ]
Manso, Jacopo [1 ]
Ferrara, Alfonso Massimiliano [2 ]
Mian, Caterina [1 ]
机构：
[1] Univ Padua, Dept Med DIMED, Endocrinol Unit, I-35128 Padua, Italy
[2] Veneto Inst Oncol IOV IRCCS, Familial Canc Clin & Oncoendocrinol, Padua, Italy
来源：
THYROID | 2019年 / 29卷 / 03期
关键词：
RTH beta; THRB gene; novel mutation;
D O I：
10.1089/thy.2018.0201
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Resistance to thyroid hormone beta (RTH beta) is a syndrome characterized by high serum levels of thyroid hormone and unsuppressed serum thyrotropin concentrations. RTH beta 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 RTH beta caused by a novel mutation in the THRB gene (c.1069 G>C, p.G357R) occurring outside the historically known "hot" regions.
引用
收藏
页码：449 / 451
页数：3
相关论文
共 50 条
  • [1] Thyroid Hormone Resistance Due to Thyroid Hormone Receptor Beta (THRB) Gene Mutation
    Gupta, Priyanka
    Sharma, Rajni
    Jain, Vandana
    INDIAN JOURNAL OF PEDIATRICS, 2025, 92 (01): : 99 - 99
  • [2] Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report
    Isik, Emregul
    Beck-Peccoz, Paolo
    Campi, Irene
    Ozon, Alev
    Alikasifoglu, Ayfer
    Gonc, Nazli
    Kandemir, Nurgun
    TURKISH JOURNAL OF PEDIATRICS, 2013, 55 (03) : 322 - 327
  • [3] A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone
    Nagashima, T
    Yagi, H
    Nagashima, K
    Sakurai, A
    Onigata, K
    Nomura, Y
    Morikawa, A
    Matazow, G
    Couch, RM
    Weiss, RE
    Refetoff, S
    THYROID, 1997, 7 (05) : 771 - 773
  • [4] Thyroid hormone, resistance caused by a novel mutation (p.Lys342GIu) in the thyroid hormone receptor beta gene (THRB)
    Mann, W. A.
    GroB, U.
    Usadel, K. H.
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2007, 37 : 81 - 81
  • [5] A novel mutation (p.Lys342Glu) in the thyroid hormone receptor beta gene (THRB) resulting in thyroid hormone resistance
    Mann, W. A.
    GroB, U.
    Usadel, K. H.
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2007, 115 : S41 - S41
  • [6] A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone
    Ito, Jumpei
    Narumi, Satoshi
    Nishizawa, Kazumichi
    Kamimaki, Tsutomu
    Hori, Naoaki
    Hasegawa, Tomonobu
    CLINICAL PEDIATRIC ENDOCRINOLOGY, 2016, 25 (01) : 19 - 22
  • [7] A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone
    Kijima, H
    Kubo, M
    Ishizuka, T
    Kakinuma, M
    Koike, T
    HUMAN GENETICS, 1996, 97 (03) : 407 - 408
  • [8] Thyroid hormone resistance based on a causative mutation in the thyroid hormone receptor β (THRB) gene
    Vandendriessche, Barbara
    Lapauw, Bruno
    Kaufman, Jean-Marc
    T'Sjoen, Guy
    ACTA CLINICA BELGICA, 2017, 72 : 20 - 21
  • [9] A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome
    Del Prete, Michela
    Muratori, Fabrizio
    Campi, Irene
    Di Sacco, Gianleone
    Vignati, Federico
    Pellegrino, Domenico
    Persani, Luca
    ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2021,
  • [10] Thyroid Hormone Receptor Beta Gene Mutation (P453A) in a Family Producing Resistance to Thyroid Hormone
    Bayraktaroglu, T.
    Noel, J.
    Alagol, F.
    Colak, N.
    Mulkaddes, N. M.
    Refetoff, S.
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2009, 117 (01) : 34 - 37
12345