病例报告:由新型SCP2拼接突变引起的情节性精神病
Haiyan Tang1, Yingying Luo2, Zhenchu Tang2
1The Second Xiangya Hospital, and Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, Department of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Frontiers in neurology
|October 31, 2023
概括
SCPx缺乏症是一种罕见的过氧体性疾病,在第三位患有情节性精神病的患者中详细说明,与之前的病例不同. 基因分析揭示了SCP2的新奇突变,扩大了这种代谢性脑病变的已知谱.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- SCPx缺乏症是一种罕见的过氧体β氧化障碍,记录病例有限.
- 之前的患者呈现了渐进式的 dystonia/ ataxia 和对称的 thalamic/脑干病变.
研究的目的:
- 描述第三个SCPx缺乏症患者的遗传基础和临床表现.
- 扩大对SCP2相关代谢性脑病变的基因型和表型谱的理解.
主要方法:
- 整体外基因组测序以识别遗传突变.
- RNA测序来分析转录的变化.
- 对患者的临床和神经成像评估.
主要成果:
- 在SCP2基因中发现了一种同卵性拼接突变 (c.674 + 1G > C).
- RNA测序证实了SCP2成熟转录中的第8个外因子跳转.
- 患者出现了情节性精神病症,与以前的病例不同,尽管神经成像发现类似.
结论:
- 这一案例扩大了已知的SCP2相关代谢性脑病变的临床谱,包括了情节性精神病.
- 鉴定到的突变及其对SCP2转录的影响为该疾病的分子机制提供了进一步的见解.
- 强调考虑在患有无法解释的神经症状和特征性MRI发现的患者中进行基因检测的重要性.
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