在俄罗斯患者中对鲁宾斯坦-泰比综合征的分子遗传分析
Olga R Ismagilova1, Tagui A Adyan1,2, Tatiana S Beskorovainaya1
1DNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, Russia.
Frontiers in genetics
|February 17, 2025
概括
遗传测试在42.4%的俄罗斯患有鲁宾斯坦-泰比综合征 (RSTS) 患者中发现了致病变体. 这项研究强调了CREBBP和EP300基因分析对RSTS诊断的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 医学诊断 医学诊断 医学诊断
- 罕见疾病 罕见疾病
背景情况:
- 鲁宾斯坦-泰比综合征 (RSTS) 是一种综合征性智力障碍,每100至125,000名新生儿中就有1例发生.
- 经典的RSTS诊断依赖于临床表型和CREBBP和EP300基因的遗传分析.
- 很大一部分RSTS病例仍然无法通过当前的方法进行诊断.
研究的目的:
- 在158名俄罗斯患者的队列中调查RSTS的遗传基础.
- 评估多重结合依赖探针放大 (MLPA) 和下一代测序 (NGS) 的诊断产量.
- 探索表型相似条件的差异诊断.
主要方法:
- 招募158名疑似RSTS的俄罗斯患者.
- MLPA和NGS用于分子遗传分析的应用.
- 病原性和可能病原性变体的识别和表征.
主要成果:
- 在67名患者 (42.4%) 中发现了致病变体.
- 大多数变异 (39%) 在CREBBP基因中发现,在EP300中发现的比例较小 (2%).
- 在一名患者身上发现了一种与浮动港综合征相关的SRCAP的致病变体,这表明差异诊断中的重叠.
结论:
- 使用MLPA和NGS进行的分子遗传测试证实了RSTS患者的大量子集中的致病变体.
- CREBBP和EP300是涉及RSTS的主要基因.
- 考虑SRCAP变异对于对RSTS类表型的差异诊断很重要.
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