c.1155-3A>G是一种致病性变体,导致异常拼接,破坏了准纤维素表达,以及甲状腺功能障碍症-瘤综合征
Leor Needleman1, Nicolette Chun2,3, Sathvika Sitaraman1
1Department of Medicine, Division of Endocrinology, Stanford University, Stanford, CA 94305, United States.
JBMR plus
|December 16, 2024
概括
在CDC73基因 (c.1155-3A>G) 中新发现的一种非编码变异被证实在患有甲状腺功能增强症-瘤综合征 (HPT-JT) 的家庭中具有病原性. 这一发现凸显了RNA测试对于诊断CDC73相关疾病的重要性.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
背景情况:
- 疾病预防控制中心73基因的生殖系和体型变异与甲状腺癌和遗传性原发性甲状腺功能障碍症 (PHPT) 综合征有关,包括家族隔离性甲状腺功能障碍症 (FIHP) 和甲状腺功能障碍症-瘤综合征 (HPT-JT).
- 鉴定致病性生殖系变体对于手术规划,综合征查和PHPT中的家族成员鉴定至关重要.
- 已经记录了各种致病性生殖系CDC73变异,如删除,截断,误解和拼接位突变.
研究的目的:
- 为了调查以前不确定的CDC73变种 (c.1155-3A>G) 在一个HPT-JT的家庭中.
- 为了证明这种非编码的生殖系变异的致病性.
- 强调RNA测试在CDC73相关疾病中的诊断效用.
主要方法:
- 在患有PHPT的家庭成员中识别了一种非编码的生殖系CDC73变种 (c.1155-3A>G).
- 对CDC73在周围血液细胞中的拼接进行分析.
- 评估在甲状腺腺瘤中对甲状腺素的免疫分泌.
- 复习塞斯塔米比光成像结果.
主要成果:
- 疾病预防控制中心73 c.1155-3A>G变种在两名患有PHPT的家庭成员中被发现.
- 这种变体显示了周围血液细胞中改变的CDC73拼接.
- 在相关的副甲状腺腺瘤中,甲状腺素免疫染被破坏,证实了病原性.
- 塞斯塔米比扫描显示了副甲状腺腺瘤的非诊断局部.
结论:
- 非编码的生殖系CDC73变体c.1155-3A>G是致病的,并导致HPT-JT.
- RNA测试是CDC73相关疾病的宝贵诊断工具.
- 彻底的三代家族史对于诊断HPT-JT等遗传疾病至关重要.
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