划分PNPLA8相关线粒体病变的表型
Mohamed S Abdel-Hamid1, Ghada M H Abdel-Salam2, Sherif F Abdel-Ghafar1
1Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Clinical genetics
|September 6, 2023
概括
在PNPLA8基因的致病变体导致神经退行性疾病与不同的发病年龄. 这项研究将婴儿发病确定为一个独特的表型,表明变异性部位影响疾病呈现.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 分子生物学分子生物学
背景情况:
- PNPLA8基因中的致病变体与神经退行性疾病有关.
- 之前报告的表型包括先天发病的小头症和早期死亡率,儿童神经退行症和成人发病的小脑动症.
- 在此之前,只有六名患有双性PNPLA8变异的患者被报告.
研究的目的:
- 描述三名携带PNPLA8变异的新患者的临床和分子特征.
- 为了确定与PNPLA8突变相关的新型表型.
- 调查变种类型,变种部位和疾病发作之间的相关性.
主要方法:
- 进行了exome测序,以确定PNPLA8.8中的变异.
- 收集和分析了三名患者的临床数据.
- 表型特征与已识别的遗传变异相关.
主要成果:
- 在PNPLA8中发现了两种新型变异:一种功能丧失变异 (c.1231C>T,p.Arg411Ter) 和一种错误变异 (c.1559T>A,p.Val520Asp).
- 患者1呈现了疾病的先天性形式.
- 2号和3号患者呈现出渐进的小头症,婴儿发作,皮质缩,白质损失,基底腺变性和囊性脑膜,表明婴儿发作表型.
结论:
- 婴儿发病被确定为PNPLA8相关疾病的新鲜表型.
- 变种的部位,而不是其类型,似乎与疾病发病年龄有很强的相关性.
- 与PNPLA8相关的疾病代表了一种临床谱,其特征因发病年龄而异.
关键词:
这就是PNPLA8的原因.囊性脑膜炎 囊性脑膜炎 囊性脑膜炎 囊性脑膜炎基底腺的退化.早期发作的性脑病变 (Epilepsy Encephalopathy) 是一种早期发作的性脑病变.微头症是一个微头症.更多相关视频
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