[神经发育障碍的临床特征和分子发病因子,与ZNF142基因变异相关的语言障碍和高动力运动相关]
1Department of Neonatology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Zhonghua er ke za zhi = Chinese journal of pediatrics
|July 22, 2025
概括
在ZNF142基因中,复合异质合体变体通过降低基因表达的调节,导致神经发育障碍,发言障碍和高运动障碍 (NEDISHM). 一卵双胞胎表现出明显的临床症状,突出表型异质性.
科学领域:
- 遗传学和分子生物学
- 神经发育障碍 神经发育障碍
- 人类分子遗传学 人类分子遗传学
背景情况:
- 神经发育障碍与发言障碍和运动障碍 (NEDISHM) 是一种罕见的疾病,具有复杂的遗传基础.
- 指蛋白142 (ZNF142) 在神经发育中的作用尚未完全理解,因此需要对其相关遗传变异进行进一步的研究.
研究的目的:
- 调查与ZNF142基因变异相关的NEDISHM的临床表现.
- 阐明驱动与ZNF142突变相关的NEDISHM病原体的分子机制.
主要方法:
- 对两名被诊断患有NEDISHM的儿科患者进行了回顾性病例系列分析.
- 整体外体测序 (WES) 用于变种识别,桑格测序用于验证.
- 在基因病原性预测,结构建模和定量PCR用于基因表达分析.
主要成果:
- 两名单胞胎双胞胎男性呈现出不同程度的言语障碍,智力障碍和超运动运动.
- 在两个双胞胎中都发现了复合异构性ZNF142变体 (一种无稽之谈,一种新鲜的误解).
- 误解变异被预测为致病性,破坏蛋白质功能;患者的ZNF142 mRNA水平显著降低.
结论:
- 复合异构ZNF142变体通过降低ZNF142表达的调节导致NEDISHM.
- 同样的遗传背景可以导致NEDISHM患者显著的临床表型异质性.
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