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导致G6PC3缺陷的创始突变的分子和临床特征

Xin Zhen^1,2, Michael J Betti^1,3, Meltem Ece Kars⁴

¹Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

medRxiv : the preprint server for health sciences

|May 27, 2024

概括

在墨西哥土著人口中常见的G6PC3基因突变会通过抑制糖解导致严重的先天性中性质衰竭. 这种功能丧失变异源于创始人效应,有助于该地区的诊断.

科学领域:

遗传学遗传学是一个
代谢障碍代谢障碍代谢障碍
血液学血液学血液学

背景情况:

G6PC3 缺乏症是一种罕见的遗传性疾病,导致综合征性先天性中子.
它是由1,5-基醇-6-酸盐 (1,5-AG6P) 积累的结果,抑制糖解.
异质的血液外表现往往会延迟诊断.

研究的目的:

研究墨西哥裔患者G6PC3 c.210delC变异的起源和功能后果.
描述与这种特定突变相关的临床表型.
评估突变对G6PC3蛋白表达和糖解的影响.

主要方法:

对全基因组测序数据的哈普洛型分析,以确定等位基因的起源和年龄.
检查患者衍生细胞中的G6PC3蛋白表达.
细胞外流量测试以评估糖解损害.
临床表现与现有的G6PC3缺乏病例的比较.

主要成果:

据估计,G6PC3 c.210delC变种起源于美国土著祖先.
这种框架转移突变导致G6PC3蛋白表达的完全丧失.
患者的细胞在暴露于1,5-基醇 (1,5-AG) 时显著减少了糖解.
携带者中的临床特征与4型综合征性严重先天性中性质疏松症一致.

结论:

G6PC3 c.210delC突变代表了一种功能丧失变异,在墨西哥土著人口中具有创始人效应.
结果可以帮助诊断更多的患者在这个人口.
开发的1,5-AG-依赖功能测试可以评估其他G6PC3变异的致病性.

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