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患有,眼科异常和神经发育迟缓的患者的基因变异EPHA4

M Sleptsova^1,2, C Georgiev³, S Atemin¹

¹Genetic Medico-Diagnostic Laboratory "Genica", Sofia, Bulgaria.

Balkan journal of medical genetics : BJMG

|March 14, 2024

概括

整体外体测序在一个患有未诊断的神经疾病的男孩身上发现了一种可能致病的EPHA4基因变异. 这凸显了在诊断复杂病例时需要捐赠者的遗传数据的必要性.

科学领域:

遗传学是一个遗传学.
神经学神经学
发展生物学发展生物学

背景情况:

未被诊断的神经综合征带来诊断挑战,特别是在涉及辅助生殖技术的情况下.
整体外体测序 (WES) 是一种强大的工具,用于识别罕见疾病的基因变异.
在体外受精 (IVF) 使用捐赠性子体引入了遗传遗传追踪的复杂性.

研究的目的:

确定儿科患者未被诊断的神经综合征的遗传原因.
为了研究一种新型遗传变异的遗传模式.
强调在诊断旅程中捐赠者遗传信息的重要性.

主要方法:

在患者身上进行了整体外体测序 (WES).
进行分离分析以确定变异的遗传.
使用已建立的分类准则来评估变异性致病性.

主要成果:

在该患者身上发现了EPHA4基因中的异构,可能致病的变体 (c.1655_1656, p.(Ser552CysfsTer23).
确定的变种是de novo,不是从母亲遗传的.
精子捐赠者无法进行基因检测,阻碍了完全分离分析.

结论:

鉴定的EPHA4变异扩大了复杂神经综合征的遗传原因的范围.
这一案例强调了在诊断儿科神经障碍时,对来自性质细胞捐赠者的可访问遗传数据的急需.
改善对供体生物样本或遗传信息的获取对于解决遗传模两可的病例至关重要.

关键词:

在EPHA4中使用.是一种病.神经发育延迟 - 神经发育延迟这是一种新的遗传变异.眼科异常眼科异常整体外体序列测序整个外体序列测序

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