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鉴定了一种与发育性和性脑病 (DEE) 71型相关的新型同卵性GLS基因变异

Afsaneh Bazgir^1,2, Mehdi Agha Gholizadeh^1,2, Seyyed Mohammad Kahani^1,2

¹Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

|April 15, 2024

概括

在患有性脑病变的患者中,发现了GLS基因中的新型同卵性变异. 这一发现突出了GLS基因.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
分子生物学分子生物学

背景情况:

发育性和性脑病变 (DEE) 是一种严重的神经疾病,其特征是和发育回归.
对于大脑功能至关重要的基因的突变是DEE的常见原因.
GLS基因在中枢神经系统 (CNS) 中起着至关重要的作用.

研究的目的:

在年轻患者中确定性脑病变的遗传原因.
调查GLS基因在DEE类型71.1中的作用.
为了表征一种新的GLS基因变异.

主要方法:

进行全外体测序 (WES) 来识别遗传变异.
桑格测序用于患者和家庭的变异验证.
进行了生物信息学分析,以预测变体的功能影响.

主要成果:

在GLS基因中发现了一种新型同卵性误解变异 (NM_014905.5:c.1849G>T; p.(Asp617Tyr)).
该变种在患者及其血缘亲属家庭成员中得到证实.
生物信息学分析表明,这种变体可能会改变拼接并导致GLS蛋白功能丧失.

结论:

鉴定到的GLS基因变异可能是致病的,并导致性脑病变.
这项研究扩展了已知的DEE型71的遗传原因.
GLS基因与严重大脑疾病的发病有关.

关键词:

发育性和性脑病变 (DEE)在 GLS 中使用.剪接的变种是剪接的变种.整体外体序列化 (WES) 是一种方法.

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