案例报告:一个患有NCKAP1-相关神经发育障碍和自闭症谱系障碍的成年人
Aruna Jain1, Elizabeth VanSickle2, Lia Zitano2
1College of Human Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, United States.
Frontiers in psychiatry
|June 24, 2025
概括
本病例报告详细介绍了一名中年男性,患有神经发育障碍 (NDD) 和自闭症谱系障碍 (ASD),与罕见的NCKAP1基因变异有关. 这突显了与NCKAP1相关的NDD的成年人呈现,此前在这个年龄组中没有报告.
科学领域:
- 遗传学和神经学 遗传学和神经学
- 神经发育障碍 神经发育障碍
- 自闭症谱系障碍研究研究
背景情况:
- 与NCKAP1基因相关的神经发育障碍 (NDD) 是罕见的,主要在年轻成年人中报告有限.
- 现有的文献缺乏对成人表型的描述,特别是在中年或老年人中.
- NCKAP1基因变异与NDD有关,通常呈现自闭症谱系障碍 (ASD) 特征.
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