由双性POLR3A和1C致病变体引起的POLR3相关的白血病:一个单中心体验
Jing Liu1,2, Yue Niu1,2, Jiong Qin1,2
1Department of Pediatrics, Peking University People's Hospital, Beijing, China.
Frontiers in neurology
|March 29, 2024
概括
与POLR3相关的白血病 (POLR3-HLD) 呈现出从轻度到重度的多种症状,通常出现在婴儿期. 基因分析揭示了POLR3A的常见突变,特别是在中国患者中.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 与POLR3相关的低血质化白血病 (POLR3-HLD) 是一种罕见的遗传神经系统疾病.
- 它的特点是大脑白质中的异常,这是由于编码RNA聚合酶III子单元的基因突变造成的.
研究的目的:
- 在中国患者中调查POLR3-HLD的临床,放射和遗传特征.
- 为了确定常见的突变及其与疾病呈现的相关性.
主要方法:
- 对14名被诊断患有POLR3-HLD.的中国患者进行的横截面观察研究.
- 评估临床表现,脑部MRI发现和遗传检测结果.
主要成果:
- 13名患者 (92.9%) 在POLR3A中出现突变,其中一名 (7.1%) 在POLR1C中出现突变.
- 常见的症状包括运动延迟,步行异常和智力障碍 (85.7%) 在生命的头两年内出现.
- 所有患者在MRI上都表现出低髓化,在14例中6例中保留了基底腺髓化.
结论:
- POLR3-HLD表现出显著的表型变异性,从轻微到严重的神经和非神经症状.
- 在生命的头两年内早期出现的症状是典型的.
- 在POLR3A中,c.1771-6C>G或c.1771-7C>G变异是研究中中国人群中最常见的突变.
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