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在埃及患有OCA1和新扩展的TKFC特征的埃及患者中,双性TYR和TKFC变异

Engy A Ashaat¹, Nora N Esmaiel², Sonia A El-Saiedi³

¹Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ea.ashaat@nrc.sci.eg.

|September 9, 2024

概括

这项研究确定了TYR和TKFC基因的双重遗传变异,这些变异发生在一个异型眼皮性白化症 (OCA1) 的家庭中,导致严重的骨问题和致命的多变性心肌病. 这些发现增强了复杂遗传性疾病的遗传咨询.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
心脏病学心脏病学

背景情况:

眼皮性白化1型 (OCA1) 通常与TYR基因变异有关.
TKFC基因变异与三酶和FMN环酶缺乏综合征有关,导致多系统性疾病.

研究的目的:

调查两名新生儿的致病变体,这些新生儿具有非典型的OCA1特征和严重的骨异常.
在受影响的新生儿中确定致死性超性心肌病的遗传基础.
探索多系统性疾病中TKFC基因变异的致病机制.

主要方法:

的TYR基因的桑格测序.
整体外基因组测序和同分离分析.
计算分析以预测变体的病原性.

主要成果:

在TYR中确定了同卵性NM_000372.5:c.346C>T (p.Arg116*) 变异和在受影响的新生儿中在TKFC中确定了同卵性NM_015533.4:c.598G>A (p.Val200Ile) 变异.
该TKFC变种 (p.Val200Ile) 破坏了酶活性位点的闭合,导致DHA酸化受损.
由于广泛的父母血缘关系,确认了自体逆向遗传.

结论:

这是第一个报告的家族,同时存在双TYR和TKFC变体,导致严重的骨异常和致命的多变性心肌病.
这些发现强调了在异型遗传疾病中考虑多个基因变异的重要性,以改善遗传咨询.
鉴定的TKFC变异是全球第三个报告的变异,扩大了已知的这一基因相关疾病的谱.

关键词:

在TKFC中,我们有很多东西.这就是TYRR.双类变体的双类变体扩大表型TKFC频谱的范围.眼皮性白化 (OCA1) 是一种眼皮性白化.

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