一个11岁的女孩患有SMC1A病原变异的感觉运动多神经病变:一个病例报告
Angelica De Luisa1, Carlo A Cesaroni1, Marzia Pollazzon2
1Child Neurology and Psychiatry Unit, Pediatric Neurophysiology Laboratory, Mother and Child Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Neuropediatrics
|November 14, 2024
概括
在SMC1A基因的罕见变异会导致发育性和性脑病变 (DEE). 这项研究确定了SMC1A相关的DEE与年轻患者严重的感觉运动多神经病变之间的新兴关联.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 在SMC1A基因的致病变体通常导致康奈莉亚·德朗格综合征 (CdLS).
- 罕见的SMC1A变异与发育性和性脑病变 (DEE) 相关,其特征是早期发作的难治性.
- 周围神经病变以前没有在SMC1A相关的DEE中描述过.
研究的目的:
- 报告SMC1A相关的DEE病例与异常表现的外围神经病变.
- 调查观察到的表型的遗传基础.
- 扩大SMC1A基因变异的已知表型谱.
主要方法:
- 一个患有和神经发育障碍的11岁女孩的临床病例描述.
- 神经生理学检查,包括神经传导速度研究.
- 整体外基因组测序以识别遗传变异.
主要成果:
- 这位患者出现了,行走障碍和神经发育障碍.
- 神经传导研究显示混合,慢性,感官运动,四肢多神经病变.
- 整体外体序列测定在SMC1A基因中发现了一种致病变体c.3145C>T p.
结论:
- 这一案例表明,严重的感官运动性多神经病变可能是SMC1A相关的DEE以前未被识别的特征.
- 这些发现扩大了与致病性SMC1A变异相关的表型谱.
- 需要进一步的研究来证实在更大的队列中这种关联.
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