BRAT1基因组合异构基因突变导致致命的新生儿刚性和多焦点发作综合征:一个病例报告
Dong-Yuan Qin1, Qin-Qin Tang1, Dan Feng1
1Department of Neonatology, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, China.
Frontiers in pediatrics
|February 25, 2026
概括
新型组合异构 BRAT1 基因突变,包括影响mRNA拼接的罕见同名变体,导致致命的新生儿性和多焦点综合征 (RMFSL). 这扩大了RMFSL已知的遗传原因.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- BRAT1基因中的双基因突变与致命的新生儿性和多焦点综合征 (RMFSL) 有关.
- RMFSL表现为耐火性,高血压,自主功能障碍和早期死亡率.
- 本研究侧重于一个特定的婴儿病例,以进一步了解BRAT1相关的RMFSL.
研究的目的:
- 报告婴儿RMFSL病例,该婴儿患有新型化合物异构 BRAT1 基因突变.
- 为了研究影响mRNA拼接的罕见同名BRAT1变异的致病性.
- 扩大对BRAT1相关RMFSL的基因型谱的理解.
主要方法:
- 在受影响的婴儿身上进行了全外体测序.
- 复合异构 BRAT1 突变的识别和表征.
- 生物信息学分析以预测同名变异对mRNA拼接的影响.
主要成果:
- 婴儿出现了发作,脚和呼吸衰竭,与RMFSL一致.
- 已经确定了复合的异构 BRAT1 突变 (c.1395G>C,p.Thr465Thr 和 c.1297delC,p.Leu433Trpfs*).
- 同名变体 (c.1395G>C) 显示出预测对mRNA拼接的高风险影响.
- 婴儿,尽管得到了支持性护理,但在一个月大时去世了.
结论:
- 同义词的BRAT1变体可以通过影响mRNA拼接而致病,导致严重的RMFSL.
- 这一案例扩大了与RMFSL相关的已知遗传变异.
- 在基因检测中,全面的生物信息学分析对于识别非编码病原体变异至关重要.
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