Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation
试验速览
- 阶段
- 不适用
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Effect of ASNS gene mutation on RNA expression in prefrontal cortex cells of brain tissue
研究概览
简要总结
The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.
详细描述
Congenital microcephaly could cause by gene mutation. Asparagine synthetase deficiency, which is caused by ASNS mutation, is a rare autosomal recessive neurometabolic disorder. It is characterized by severe developmental delay, congenital microcephaly, seizures. The investigators found a family with ASNS mutaion. The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Mutation Group: Having ASNS gene mutation by DNA exon sequencing.
- •Control Group: No ASNS gene mutation by DNA exon sequencing.
排除标准
- •Mutation Group: N/A.
- •Control Group: Having other gene mutation which also effect neurodevelopment.
结局指标
主要结局
Effect of ASNS gene mutation on RNA expression in prefrontal cortex cells of brain tissue
时间窗: 2018.06-2020.12
Detect RNA expression in prefrontal cortex cells by single cell RNA sequencing.
次要结局
未报告次要终点
研究者
Bo Chen
Associate Chief Physician
The First Hospital of Jilin University