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扩展的向外体测序和功能验证改善了分子诊断,并完善了先天性阴性性阴性症的基因型-表型相关性

Jessica Silva Fausto^1,2, Lucas G A Ferreira^1,3, Silvia R Correa-Silva^4,5

¹Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

Neuroendocrinology

|September 9, 2025

概括

在57%的患者中,基因检测确定了先天性性性性 (CHH) 的分子原因,揭示了寡基遗传模式和新的遗传变异. 这促进了对CHH的理解.

科学领域:

内分泌学在内分泌学.
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

先天性性性性性 (CHH) 是由性释激素 (GnRH) 途径缺陷引起的,导致缺席/不完全的青春期.
CHH表现出遗传异质性,涉及50多个基因.
这项研究调查了CHH患者队列中的遗传变异.

研究的目的:

为了确定CHH患者的遗传变异.
探索基遗传在CHH中的作用.
评估下一代测序 (NGS) 面板对CHH的诊断实用性.

主要方法:

有针对性的NGS小组分析了35名患者中的52个CHH相关基因.
功能性研究以验证已识别的变异.
分析包括单核酸变异,复制数变异和寡质遗传.

主要成果:

在57%的患者中确定了分子病因 (20/35).
在39% (12/35) 的基因诊断病例中检测到寡原性遗传.
确定了ANOS1,CHD7,FGFR1和KISS1R等基因中的新型致病变体,包括删除和SNVs.

结论:

NGS面板是有效的诊断复杂的遗传疾病,如CHH.
寡生遗传有助于CHH的表型多样性.
可能存在与神经发育障碍的共享机制,影响诊断和咨询.

关键词:

遗传性性性性性性性遗传变体的遗传变体这就是KISS1R.卡尔曼综合征是卡尔曼综合征的一种症状.有针对性的下一代测序.

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