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由于EIF2B基因导致的卵巢白细胞缩:系统审查和病例报告

Mariana Escobar-Pacheco¹, Mariana Luna-Álvarez^1,2, David Dávila-Ortiz de Montellano¹

¹Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Mexico City, MEX.

|August 14, 2024

概括

卵巢白细胞衰竭是一种罕见的消失白质疾病亚型,涉及中枢神经系统的白质和卵巢功能障碍. 在真核转化启动因子2B (EIF2B) 复合体中存在遗传变异,在EIF2B4和EIF2B5.5中常见的误解突变.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
生殖医学生殖医学

背景情况:

白血病是影响中枢神经系统的遗传白质疾病.
消失白质疾病 (VWMD) 是一种渐进的形式.
卵巢白细胞缩,一种VWMD亚型,表现为中枢神经系统和卵巢问题.

研究的目的:

系统地审查与EIF2B1-5基因变异相关的卵巢白细胞损伤病例.
包括一个新发现的墨西哥病例.
分析基因型-表型相关性和诊断方法.

主要方法:

按照PRISMA指南进行系统审查.
在PUBMED,SCOPUS和PMC数据库中进行了搜索.
包括14份报告,包括卵巢,神经成像和分子数据.

主要成果:

在全球确定了20例病例,发病的中位数年龄为19岁.
共同特征:白质变化,卵巢异常,神经缺陷.
主要突变:EIF2B4和EIF2B5基因中的误解变异.

结论:

卵巢白细胞缩症是极为罕见的,具有不同的临床和卵巢表现.
妇科评估至关重要,因为卵巢症状可能会先于神经症状.
核磁共振是诊断的关键;需要合作研究来管理和治疗.

关键词:

eif2b1-5 的基因是核磁共振成像 (MRI) 的成像卵巢白细胞缩症是什么意思系统性审查系统性审查消失的白质疾病消失的白质疾病

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