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在死胎中识别和功能分析一种新型CSNK2A1框架转移变异

Nannan Zhang^1,2, Miao Han¹, Tong Zhao¹

¹Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital of Yangzhou University, Lianyungang, China.

Frontiers in genetics

|November 11, 2025

概括

在死胎中发现了CSNK2A1基因的新型框架转移突变,导致蛋白质表达减少和功能受损. 这一发现有助于在产前诊断CSNK2A1相关疾病.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
发展生物学发展生物学

背景情况:

由CSNK2A1编码的素激酶II亚单元α (CK2α) 调节关键的细胞过程.
CSNK2A1突变与Okur-Chung神经发育综合征 (OCNS) 有关.
产前CSNK2A1缺乏的病例很少见,尽管它在胚胎发育中的作用.

研究的目的:

为了调查在产前病例中发现的新型CSNK2A1突变.
为了确定发现的突变的功能后果.
提高对CSNK2A1相关疾病的理解,以改善产前诊断.

主要方法:

全基因组测序 (WGS) 用于变种识别.
桑格测序用于变种验证.
蛋白质结构的生物信息预测和体外功能测定 (激酶活性,mRNA/蛋白质水平,无处不在).

主要成果:

在CSNK2A1中发现了一种新型的框架转移突变 (c.1020_1021delAG) 在一个有结构异常和死胎的胎儿中.
突变导致突变mRNA显著升高,但减少了蛋白质表达.
虽然激酶活性没有受损,但升的无化表明减少蛋白质丰度的机制.

结论:

一种新的CSNK2A1框架转移突变显著降低了蛋白质表达,并损害了基因功能.
这项研究扩展了CSNK2A1中已知的遗传变异,并强调需要进行全面的功能分析.
这些发现有助于对CSNK2A1相关疾病的产前诊断,并支持临床决策.

关键词:

在CSNK2A1基因.仍然出生的人.在WGS中,使用的是WGS.这种基因变异的基因变异.内异常是一种内异常.进行全基因组测序.

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