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对1型阿拉吉尔综合征病例的临床和分子遗传研究

Eleni Koniari¹, Iphigenia Gintoni^1,2,3, George P Chrousos¹

¹University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Choremion Laboratory, "Aghia Sophia" Children's Hospital, Athens, Greece.

Advances in experimental medicine and biology

|November 22, 2025

概括

阿拉吉尔综合征 (ALGS) 是一种罕见的遗传疾病. 该案例研究确定了一种新的JAG1基因变异,在一名17岁的女性中引起ALGS,强调了诊断基因检测的重要性.

科学领域:

遗传学遗传学是一个
罕见疾病罕见疾病
分子生物学分子生物学

背景情况:

阿拉吉尔综合征 (ALGS) 是一种罕见的自体主导性疾病,影响多个器官.
它源于JAG1或NOTCH2基因的致病变体,破坏了Notch信号传递.
临床特征包括面部,肝脏,心血管,骨和的并发症.

研究的目的:

在17岁的女性中呈现Alagille综合征1型病例.
为了确定该患者ALGS的遗传原因.
报告一种与ALGS相关的新型JAG1基因变异.

主要方法:

基于肝功能障碍,胆固醇,囊,面和骨特征的临床诊断.
从外围血液中提取基因组DNA.
整体外体序列测序,然后进行桑格序列测序验证.

主要成果:

在JAG1基因中确定了一种可能的致病性供体拼接变体 (c.2372+1G>C).
这种异合体变种影响拼接,并通过桑格测序得到证实.
生物信息分析表明,这种变种可能会导致表细胞跳转.

结论:

这名患者被诊断出患有1型自体主导阿拉吉尔综合征.
这种诊断归因于JAG1基因的新发病性突变.
这种特定的JAG1变种是新的,以前在文献中没有描述过.

关键词:

其他资产负债表1 青少年时期青春期阿拉吉尔综合征是什么意思遗传诊断是一种基因诊断.简介:JAG1是一个JAG1团队.罕见疾病是一种罕见的疾病.剪接突变发生在剪接突变中.在WES WES中,您可以使用

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