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与ZFHX3相关的神经管缺陷

Dibyendu Dutta¹, Erfan Aref-Eshghi², Ria Garg³

¹Medicine (Hematology and Oncology), SUNY Upstate Medical University, Syracuse, New York, USA.

BMJ case reports

|November 6, 2025

概括

指Homeobox 3 (ZFHX3) 基因可能与神经管缺陷 (NTD) 和先天性异常有关. 一名患有ZFHX3变异的患者表现出脊柱裂和其他发育问题,这表明了更广泛的ZFHX3疾病谱.

科学领域:

遗传学是一个遗传学.
发展生物学发展生物学
医学遗传学医学遗传学

背景情况:

手指家庭盒3 (ZFHX3) 基因对神经发育和器官生成至关重要.
ZFHX3哈普洛缺陷与智力障碍,和神经发育缺陷有关.
在神经管缺陷 (NTD) 和相关的先天性结构异常中,ZFHX3的作用仍然未被描述.

研究的目的:

调查ZFHX3在NTD和先天性结构异常中的潜在作用.
报告一个患者的新病例,该病例具有 de novo ZFHX3 变体和相关的表型特征.

主要方法:

进行了整个外体序列测序,以确定遗传变异.
实验对象进行了临床表型化,包括对神经和结构异常的评估.

主要成果:

在一个雌性试验体中发现了一种新的异质合体ZFHX3变体 (c.5876 A>C,p.(Gln1959Pro)).
试验对象呈现出一系列先天性异常,包括脊柱裂纹隐形,细分脊柱失生,双侧脚,双主动脉和生殖器异常.
这种情况扩大了与ZFHX3.3相关的已知表型谱.

结论:

这些发现表明ZFHX3在NTD和其他先天性结构缺陷的病因学中可能发挥作用.
由于ZFHX3的改变,Wnt/β-catenin,mTOR和Hippo信号通路的破坏可能导致这些异常.
需要进一步的研究和病例报告来确定因果关系并确认ZFHX3在NTD和先天异常中的作用.

关键词:

基因查 / 咨询基因查 / 咨询脊髓是指脊髓中的一些部分.

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