在CTNNB1综合征中的先天性心脏缺陷:提高临床意识
Lorenzo Sinibaldi1, Giacomo Garone2,3, Alessandra Mandarino4
1Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Clinical genetics
|July 17, 2023
概括
在CTNNB1基因的突变导致神经发育障碍与性双和视觉缺陷. 这项研究强调了受影响患者中先天性心脏缺陷的发病率较高,建议进行心脏查.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 心脏病学 心脏病学
背景情况:
- CTNNB1基因编码β-catenin,这对Wnt信号传递和cadherin复合体功能至关重要.
- 异卵性致病性CTNNB1变异与神经发育障碍与性双和视觉缺陷 (NEDSDV) 有关.
- NEDSDV表现为精神运动延迟,智力障碍,运动障碍和视力障碍.
研究的目的:
- 为了研究NEDSDV.患者的心脏表型.
- 在一组NEDSDV患者中确定先天性心脏缺陷 (CHD) 的频率.
- 审查和整合与CTNNB1变异相关的CHD数据.
主要方法:
- 对19名NEDSDV患者的临床评估,包括对CTNNB1变异的遗传分析.
- 对受影响个体进行详细的心脏评估.
- 对之前报告的NEDSDV心脏异常患者的文献综述.
主要成果:
- 在19名患者中,有9名患有新型CTNNB1变异.
- 五名患者呈现出显著的先天性心脏异常,包括无肺,心通道,Fallot四重症和心门.
- 分析显示,NEDSDV患者的心脏病发病率高于此前所认为的.
结论:
- 遗传性心脏缺陷似乎是NEDSDV的更频繁的特征,而不是以前所认为的.
- 专门的心脏检查应该是NEDSDV患者临床管理的组成部分.
- 与CTNNB1相关的神经发育障碍需要包括心脏评估在内的综合方法.
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