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在Axenfeld-Rieger综合征谱中的替代遗传诊断

Linda M Reis^1,2, David J Amor³, Raad A Haddad⁴

¹Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

|October 28, 2023

概括

在USP9X,JAG1,CDK13,BCOR和HCCS/AMELX基因中的遗传变异解释了许多Axenfeld-Rieger异常/综合征的病例. 这扩大了对这种眼部疾病的遗传理解,并有助于准确诊断,以便更好地管理患者.

科学领域:

遗传学和眼科医学
分子生物学分子生物学
临床遗传学临床遗传学

背景情况:

阿克森菲尔德-里格异常 (ARA) 和阿克森菲尔德-里格综合征 (ARS) 是眼部疾病,通常与系统异常有关.
虽然PITX2和FOXC1变异解释了大多数ARS病例,但大约30%的遗传问题仍未解决.
扩大ARS的遗传基础对于准确的诊断和管理至关重要.

研究的目的:

鉴定未解决病例的家庭中Axenfeld-Rieger异常/综合征的新型遗传原因.
调查与新发现的基因变异相关的表型谱.
为ARS的遗传测试策略提供建议.

主要方法:

对9个具有ARA/ARS或类似表型的家族进行基因分析.
在五个不同的基因/区域中识别致病性/可能致病性变体.
鉴定变异与患者表型的临床相关性.

主要成果:

在USP9X和JAG1的病原性变异被确定在三个家族中.
USP9X变种与眼睛异常 (ARA,先天性玻璃眼) 和与FOXC1-ARS.相重叠的特征有关.
在另外三个病例中发现了CDK13,BCOR和X染色体缺失 (HCCS/AMELX) 的变异.

结论:

阿克森菲尔德-里格综合征的遗传场景比以前理解的更广泛,涉及USP9X,JAG1,CDK13,BCOR和HCCS/AMELX.
USP9X和JAG1变种可以呈现与已知的ARS基因重叠的表型,突出诊断挑战.
在PITX2 / FOXC1测试后,对未解决的ARS病例进行第二级测试,建议进行外体序列测试.

关键词:

亚梅尔克斯是什么样的人?阿克森菲尔德里格尔异常阿克森菲尔德瑞格综合征这就是BCOR BCOR.在CDK13中使用CDK13.在HCCS中,我们使用的是HCCS.简介:JAG1是一个JAG1团队.USP9XX 在美国

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