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基于下一代测序的基因测试和表型相关性在印度的视网膜炎染色体患者

Parveen Sen¹, Natarajan Srikrupa², Puja Maitra¹

¹Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.

Indian journal of ophthalmology

|June 16, 2023

概括

下一代测序 (NGS) 在107名患者中的72名患者中准确诊断出视网膜炎色素炎 (RP). 基因型-表型相关性有助于理解RP预后和指导基因疗法.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
医学诊断医学诊断医学诊断

背景情况:

遗传性视网膜发育不良 (IRD) 是一组导致光受体退化的遗传性疾病.
皮质视网膜炎 (RP) 是最常见的IRD形式,导致逐渐的视力丧失.
基因检测,特别是基于小组的方法,对于诊断RP至关重要,在很大比例的患者中确定致病突变.

研究的目的:

研究基于下一代测序 (NGS) 的向基因小组测试在诊断RP的有效性.
在RP患者队列中建立基因型-表型相关性.
为了提高诊断准确度和患者辅导RP.

主要方法:

对接受IRD基因小组测试的107名RP患者的回顾性分析.
综合眼科检查和血统文件.
提取DNA,向NGS,并进行共同分离分析以确认突变.

主要成果:

在107名患者中,72名患者中发现了致病突变.
症状发作的平均年龄为14岁,平均最佳校正视敏度 (BCVA) 为6/48.
观察到特定的基因型-表型相关性,包括胆管缩模式和与特定基因突变相关的斑点病变.

结论:

基于NGS的基因测试显著提高了RP诊断的准确性.
建立基因型-表型相关性提供了有价值的预后信息,并有助于患者咨询.
这种方法支持开发和指导新兴基因治疗RP的基因疗法.

关键词:

基因型表型相关性相关性这是下一代测序.视网膜炎的颜色化

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