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Updated: May 17, 2025

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儿童神经学:与TRAPPC4相关的神经发育障碍

Andreia Forno¹, Joana Oliveira¹, Marta Zegre Amorim¹

¹Hospital Central Funchal, Madeira, Portugal; and.

|April 2, 2025

概括

以和脑缩为特征的TRAPPC4相关的神经发育障碍与TRAPPC4基因有关. 由于其高载体频率,早期诊断至关重要,正如本案例研究所强调的那样.

科学领域:

遗传学是一个遗传学.
神经学神经学
罕见疾病罕见疾病

背景情况:

2020年发现了一种与TRAPPC4基因相关的神经发育障碍.
这种疾病表现为,性和脑缩,遗传在一种自体的衰退模式.
对于TRAPPC4变异的高载体频率,需要提高诊断意识.

研究的目的:

报告两个姐妹在TRAPPC4基因中具有同卵性致病变体.
审查TRAPPC4相关神经发育障碍的表型谱.
加强在临床实践中对这一诊断的认可和考虑.

主要方法:

对两位受影响的姐妹进行临床研究.
基因分析以确定TRAPPC4基因中的致病变体.
关于与TRAPPC4相关的神经发育障碍的文献综述.

主要成果:

两位姐妹都被发现在TRAPPC4基因中具有致病性同卵性变异 (c.454+3A>G).
诊断需要广泛和耗时的临床评估.
这项研究突出了TRAPPC4基因中的特定c.454+3A>G变异.

结论:

与TRAPPC4相关的神经发育障碍是一种需要临床警的重大遗传疾病.
在TRAPPC4中同卵性致病变体c.454+3A>G是关键的遗传原因.
提高对这种疾病的认识可以导致更早,更准确的诊断.

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