在一个神经发育迟缓和先天性心脏缺陷的男孩中出现了De Novo功能丧失NCKAP1变体
Wenying Zhang1,2, Teresa A Duffy2, Cassandra Conrad1,3
1Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.
Children (Basel, Switzerland)
|December 30, 2025
概括
在患有神经发育延迟和先天性心脏病的患者中发现了NCKAP1基因的新型破坏性变异. 这一发现支持NCKAP1在大脑和心脏发育中的作用.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 心脏病学 心脏病学
背景情况:
- 神经发育障碍 (NDD),如自闭症谱系障碍 (ASD),智力障碍 (ID) 和全球发育迟缓 (GDD),通常具有遗传起源.
- 对于actin重塑和神经元发育至关重要的NCKAP1基因,越来越多地与NDD有关.
- NCKAP1也存在于心脏组织中,这表明它在心脏发育中的作用.
研究的目的:
- 为了研究一个患有神经发育迟缓和先天性心脏病 (CHD) 的患者的遗传基础.
- 识别与NDD相关的基因中的新型变异,并探索它们在心脏异常中的潜在作用.
主要方法:
- 对患有复杂心脏和神经发育现象型的患者进行临床评估.
- 三元外体序列测序 (试验器和父母) 以确定引起的遗传变异.
- 在分析中预测识别的变异的功能影响.
主要成果:
- 在NCKAP1中发现了一种新的异构体变体 (NM_205842.3:c.2956_2959del p.(Ser986Hisfs*34)),预计会导致功能丧失.
- 该患者表现出智力障碍,言语迟缓,自闭症特征,以及一种类型的慢性心脏病 - - 全位异常肺静脉回归 (TAPVR).
- 本案是第四份报告,将NCKAP1变异与心血管疾病和/或神经发育迟缓联系起来.
结论:
- 这些发现强化了NCKAP1在神经发育和心脏形成中的作用.
- 对于患有发育和心脏疾病并发的个体来说,基因检测至关重要.
- 需要进一步的研究,以充分了解NCKAP1在心脏发育中的功能及其对CHD的贡献.
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