一个具有致病性SETD5基因变异的年轻女孩的新现象
Davide Alessi1,2, Mariapaola Schifino1,2, Giovanna Traficante3
1Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
Journal of child neurology
|June 4, 2025
概括
在SETD5基因的致病变体与有关,即使有微妙的症状. 这个案例突出了基因.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 的研究研究.
背景情况:
- 越来越多的证据表明,SETD5基因变异与之间存在联系.
- 了解SETD5在神经系统疾病,特别是方面的作用仍然有限.
研究的目的:
- 调查与致病性SETD5变异相关的神经现象型.
- 进一步阐明SETD5变体与发育之间的关系.
主要方法:
- 一个患有致病性SETD5变异的6岁女孩的案例研究.
- 整个外体序列测序用于遗传分析.
- 对神经和发育进展的纵向随访.
主要成果:
- 患者呈现全球发育迟缓,后来发展为焦点和普遍性发作.
- 神经发育障碍包括语言困难,言语障碍和轻度认知障碍.
- 同时出现的GREB1L变异与尿路感染有关.
结论:
- 可以在SETD5基因变异之后表现出来,有时有微妙的初始迹象.
- 临床表现可能与儿童认知并发症的行为问题重叠.
- 这一案例强化了SETD5变体与之间的关联,强调需要进行全面的遗传评估.
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