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在MICU1中双变异导致异体征的肌肉病变:来自61名患者的病例系列,表型谱和基因型-表型相关性

Pegah Beheshti¹, Fahimeh Akbarian¹, Emran Esmaeilzadeh²

¹Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Clinical genetics

|September 3, 2025

概括

带有额外金字塔体征的肌肉病 (MPXPS) 是一种罕见的遗传疾病,由MICU1基因变异引起. 这项研究详细介绍了62例病例,

科学领域:

遗传学
神经学
线粒体生物学

背景情况:

带有超金字塔症状的肌肉病 (MPXPS) 是一种罕见的,自体递归的多系统性疾病.
它是由调节线粒体摄取的MICU1基因中的双性功能丧失 (LOF) 变异引起的.

研究的目的:

在临床和遗传学上对MPXPS患者进行鉴定.
识别致病MICU1变体并了解基因型-表型相关性.
探索针对MCU调节的潜在治疗途径.

主要方法:

来自六个伊朗土耳其家庭的七名受影响者的临床和遗传特征.
用以识别MICU1变体的外体序列.
结合了62名患者之前发表的54例病例数据.
深度表型和年龄的分析和常见的症状.

主要成果:

鉴定了六种致病性MICU1变体:c.355C>T (p.Arg119*),c.493+1G>A,c.508C>T (p.Gln170*),c.547C>T (p.Gln183*),c.1226C>G (p.Ser409*) 和c.553C>T (p.Arg185*).
发病时的平均年龄为5. 9岁,61. 5%的患者在5岁之前出现.
常见的症状包括学习困难 (72%),肌肉病 (51%) 和语言障碍 (51%).
一个成人发病例呈现出快速进展,单胞胎双胞胎的临床过程无法区分.

结论:

MICU1变异是MPXPS的重要原因,具有一致的基因型驱动型.
MPXPS表现出一系列症状,包括神经和肌肉缺陷.
对MCU调制的进一步研究可能为MPXPS提供未来的治疗策略.

关键词:

其他国家在MPXPS 异构体测序基因型与表型的相关性肌肉病与额外的标志

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