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与俄罗斯青少年过早卵巢缺陷相关的新型变异

Polina Tsabai¹, Zaira Kumykova¹, Victoria Averkova¹

¹National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of Ministry of Health of Russian Federation, Moscow, Russia.

Frontiers in endocrinology

|December 15, 2025

概括

使用全外因组测序 (WES) 的基因测试在23.8%的青少年女性中确定了早产卵巢缺陷 (POI) 的单一原因. 这项研究强调了WES作为诊断特异性POI和发现新基因关联的关键工具.

科学领域:

遗传学和基因组学遗传学和基因组学
生殖生物学生殖生物学
分子医学是分子医学.

背景情况:

单一性疾病解释了不到一半的异常早期卵巢缺陷 (POI) 病例,这些病例发生在具有46,XX型的青少年女性中.
跨不同人群的基因调查对于了解POI的病因至关重要.
现有的基因检测方法可能无法捕获POI的所有致病变体.

研究的目的:

为了研究 46,XX karyotype 的俄罗斯青少年女性早产卵巢缺陷 (POI) 的遗传基础.
评估整体外体序列 (WES) 和副本数变异 (CNV) 分析在确定POI的单一性原因的诊断产量.
为了确定POI的新型基因疾病关联.

主要方法:

招募63名在18岁之前被诊断患有46,XX POI的俄罗斯患者.
综合基因分析,包括FMR1前基因突变测试,全外因组测序 (WES) 和副本数变异 (CNV) 分析.
用Sanger测序对可用家庭成员进行分离研究.

主要成果:

在38%的队列中,在15个基因中发现了基因变异,其中13个确定的致病基因和2个候选基因.
整体外体测序 (WES) 在17.5%的患者中检测到致病单核酸变异 (SNV),将诊断产量与CNV分析相结合时提高到23.8%.
副本数变异 (CNV) 分析确定了微删除和外因子删除,有助于整体诊断率,并揭示了新的致病变体.

结论:

整体外体测序 (WES) 是早期卵巢缺陷 (POI) 的青少年的有效诊断工具,应与型和FMR1测试一起纳入常规临床实践.
该研究确定了已知的POI相关基因中的几种新型变异,并提出了新的基因与疾病的关联.
需要进一步调查在FSHR,LMNA,NOBOX,SPIDR和LATS1等基因中发现的未知意义的变异.

关键词:

FMR1 FMR1 的使用情况.青少年青少年青少年青少年性发展的差异 (DSD)遗传学遗传学遗传学是一个卵巢发育不良的发生.过早的卵巢功能不充分.整体外因子测序 (WES) 测序

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