20名患有PMM2-CDG的中国患者的多器官参与和遗传谱
Huiting Zhang1, Jingtao Zhang1, Weimeng Ma1
1Children's Medical Center, Peking University First Hospital, Beijing 102600, China.
Molecular genetics and metabolism
|June 24, 2025
概括
胺突变酶2 (PMM2) 缺乏症 (PMM2-CDG) 是一种复杂的遗传疾病,具有多种症状. 这项研究确定c.430 T>C (p.F144L) 是中国患者中最常见的PMM2变种.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 先天性糖基化乱 (CDG) 是一组罕见的遗传疾病.
- 胺突变酶2 (PMM2) 缺乏症 (PMM2-CDG) 是最常见的CDG类型,具有广泛的神经和非神经症状的特征.
- 早期诊断和了解遗传谱对于管理PMM2-CDG至关重要.
研究的目的:
- 扩大对中国人群中PMM2-CDG的表型和遗传谱的理解.
- 总结20名中国PMM2-CDG患者的临床特征,基因型和相关数据.
主要方法:
- 临床数据的回顾性分析,包括症状,成像,电生理学和代谢资料.
- 在所有被诊断的患者中进行基因分析以确定PMM2基因变异.
- 确定PMM2基因变异的详细表征.
主要成果:
- 分析了20名患有PMM2-CDG的中国患者 (12名男性,8名女性).
- 发育迟缓,失调,增长迟缓和肝损伤是常见的表型.
- 在这个队列中,PMM2基因变异c.430 T>C (p.F144L) 是最常见的 (65.0%),与欧洲人群不同.
- 报告了五种新的PMM2变异,以及总共14种已识别的变异,主要是错误的突变.
结论:
- PMM2-CDG是一种多系统性疾病,具有多种临床表现,使早期诊断复杂化.
- 中国队列中常见的致病变体c.430T>C (p.F144L) 与欧洲患者中普遍存在的c.422G>A (p.R141H) 变体不同.
- 需要进一步的研究,以了解PMM2-CDG.中的种群特异性遗传变异.
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