两例I型化症病例和一篇文献综述
Yuan Ding1,2, Ming Cheng1,2, Chunxiu Gong3,4
1Department of Endocrinology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Genetics, Metabolism, Beijing, 100045, China.
Orphanet journal of rare diseases
|November 28, 2024
概括
这项研究详细介绍了两名患有I型化症的中国儿童,强调了临床和遗传发现. 对NEU1基因分析对于早期诊断和化病患者的遗传咨询至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 眼科医生 眼科 眼科
背景情况:
- 化症是一种罕见的溶酶体储存障碍.
- 第一种类型的シア利多斯在童年或成年后期呈现,视力受损和视力衰竭.
- 在NEU1基因的遗传缺陷导致sianlidosis.
研究的目的:
- 为了将两名患有I型化症的中国儿童的临床和电生理学特征与现有文献进行比较.
- 阐明中国人群I型化症的临床和遗传特征.
主要方法:
- 对两名患有I型化症的中国儿科患者的临床和遗传分析.
- 69个经过基因确认的I型化症病例的文献综述.
- 临床表现和电生理学发现的比较分析.
主要成果:
- 两名中国患者呈现出身材矮小,视力受损以及特定的NEU1基因变异 (c.239C>T,c.880C>T和c.239C>T,c.803A>G).
- 在71个分析的病例中,常见的症状包括肌肉,和发作.
- 异常的视觉唤起潜力 (VEP) 和体感觉唤起潜力是早期诊断的常见指标.
结论:
- NEU1基因分析对于遗传咨询和I型化症的产前诊断至关重要.
- 在中国患者中,NEU1异构2变异c.239C>T (p.P80L) 可能是突变热点.
- 早期诊断指标包括VEP和体感唤起潜能.
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