新型甲状腺激素受体β基因变体 (F245L) 引起对甲状腺激素的轻度抵抗
Keiko Yamagami1, Naotetsu Kanamoto1, Yui Yamashita1
1Department of Endocrinology, Osaka City General Hospital, Osaka 534-0021, Japan.
JCEM case reports
|November 21, 2025
概括
一种新的甲状腺激素受体β (THRB) 变体,F245L,在患有甲状腺激素β (RTHβ) 耐药性的患者中被确定. 功能性测试证实了它的轻微影响,强调了在RTHβ病例中需要综合诊断的需要.
科学领域:
- 内分泌学 在内分泌学.
- 分子遗传学 分子遗传学
- 人类遗传学 人类遗传学
背景情况:
- 对甲状腺激素β (RTHβ) 的耐药性是一种罕见的遗传疾病.
- 它的特点是对甲状腺激素的敏感性降低,导致甲状腺激素水平升高和非抑制的TSH.
- 甲状腺激素受体β (THRB) 基因中的遗传变异是RTHβ的主要原因.
研究的目的:
- 在患有RTHβ.的患者中识别和功能性地表征一种新的THRB变体.
- 为了调查F245L变种的致病性.
- 强调整合临床,生化和分子数据对RTHβ诊断的重要性.
主要方法:
- 基因检测用于识别THRB变异.
- 实验室中暂时基因表达测试以评估受体活性.
- 分析患者的临床和生化数据.
主要成果:
- 发现了一种新型异质合体误解THRB变体 (c.733T > C; p.F245L).
- 突变F245L受体显示转录活性略有降低.
- 对于F245L变种,没有观察到明显的主导负活性.
- 该变体位于连接体结合域的功能重要区域.
结论:
- 这种F245L THRB变种与RTHβ的轻微表型有关.
- 功能性证据支持F245L变种的致病性.
- 综合诊断方法对于诊断RTHβ至关重要,特别是微妙的表型和新型变异.
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