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基于三元的整体外基因组测序在异位后垂体患者中

Arthur Lyra¹, Itatiana Ferreira Rodart¹, Lara Barros¹

¹Pediatric Endocrinology Unit, Pediatric Department, Irmandade da Santa Casa de Misericórdia de São Paulo and Santa Casa de Sao Paulo School of Medical Sciences, São Paulo, Brazil.

Frontiers in pediatrics

|August 19, 2024

概括

整体外体序列测定确定了GLI2,FGFR1和KMT2A的遗传变异,与外阴后垂体 (EPP) 和垂体茎中断综合征 (PSIS) 相关. 这些发现为这些罕见的先天性疾病的遗传基础提供了洞察力.

科学领域:

遗传学是一个遗传学.
内分泌学在内分泌学.
发展生物学发展生物学

背景情况:

宫外后垂体 (EPP) 是一种罕见的先天性异常,通常与像垂体茎中断综合征 (PSIS) 这样的中线缺陷有关.
遗传性下垂体缺陷症 (CH) 病例经常在遗传上仍未解决,尽管报告的EPP家族病例很少.

研究的目的:

通过基于三元的全外因组测序 (WES) 来识别与EPP和PSIS相关的候选基因.
调查EPP和PSIS患者先天性下垂体病的遗传病因.

主要方法:

在被诊断患有EPP和PSIS的患者身上进行了三基全外因组测序 (WES).
使用了两种分析方法:寻找已知的垂体发育基因和研究新奇单一基因变异的外体.

主要成果:

之前描述的基因GLI2和FGFR1的变异在三个家族中被确定.
在FGFR1和SEMA3A中发现了新型变异,这表明PSIS和EPP中的寡原遗传.
确定了一名患有Wiedemann-Steiner综合征和PSIS的患者,这表明KMT2A基因与垂体发育有关.

结论:

GLI2变种在EPP开发中显示出不完全的透,这需要进一步的功能研究.
新的FGFR1和SEMA3A变异表明PSIS和EPP中的寡生机制.
这项研究强调KMT2A是参与 pituitary 发育的潜在基因,并为未来的研究确定其他变异.

关键词:

宫外后垂体外垂体下垂体外基因组测序是指外基因组的测序.这是一种hypopituitarism.中线缺陷中线缺陷 pituitary stalk中断综合征 - pituitary stalk中断综合征 - pituitary stalk中断综合征 - pituitary stalk中断综合征 - pituitary stalk中断综合征

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