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自体递归的勒伯遗传性视神经病变在胆固醇血症携带者. 一个案例报告报告
Eva Roomets1, Laura Mauring2,3,4
1Tallinn Children's Hospital, Tallinn, Estonia.
European journal of ophthalmology
|May 8, 2024
概括
由DNAJC30突变引起的自体递归勒伯遗传光神经病变 (arLHON) 可以发生在儿童中. 通过并行DNAJC30和线粒体DNA测序进行早期诊断至关重要,特别是在东欧患者中.
科学领域:
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
- 神经学 神经学
背景情况:
- 勒伯遗传性视神经病变 (LHON) 通常是由线粒体DNA突变引起的.
- 自体逆性LHON (arLHON) 是一种与DNAJC30基因突变相关的较罕见形式.
- 早期发病的LHON (<12岁) 具有独特的临床特征和预后.
研究的目的:
- 详细介绍arLHON的儿科病例的临床和遗传发现.
- 突出儿童arLHON的诊断挑战和策略.
- 为了调查arLHON和胆红素病 (CHM) 携带者身份的同时发生.
主要方法:
- 基因检测包括核DNA的下一代测序 (NGS).
- 对常见的LHON变体进行线粒体DNA分析.
- 多重结依赖探针放大 (MLPA) 试验用于CHM基因删除.
主要成果:
- 在DNAJC30基因中发现了一种同卵性致病变体 (c.152A>G,p.(Tyr51Cys),证实了arLHON.
- 对常见的LHON变体进行线粒体DNA测试是负的.
- 在CHM基因中对所有异构体的异构删除证实了CHM携带者身份.
结论:
- 应考虑在没有反应治疗的不明原因视力丧失的儿童中使用arLHON.
- 建议对DNAJC30和线粒体DNA进行并行测序,用于LHON诊断,特别是在东欧患者中.
- 对于怀疑的CHM携带者,建议进行基因组重组测试,测序结果为负.
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