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基因组测序在患有11p15.5印记障碍特征的患者的诊断用途:试点研究

Luise Kessler¹, Jeremias Krause¹, Florian Kraft¹

¹Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.

Clinical genetics

|December 12, 2024

概括

基因组测序 (GS) 通过在51%的患者中识别遗传原因,显著改善了对Silver-Russell综合征 (SRS) 的诊断. 这种方法对于诊断带有生长障碍的印记障碍 (ImpDis) 是有价值的.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
儿科儿科儿科

背景情况:

诊断11p15.5相关的印记障碍 (ImpDis),如银-拉塞尔综合征 (SRS) 和贝克维斯-维德曼综合征 (BWS),由于临床和分子异质性,具有挑战性.
许多患有这些综合征特征的患者在标准诊断工作后仍然未被诊断出来.

研究的目的:

评估基因组测序 (GS) 作为二级诊断测试的有效性,用于患有11p15.5相关印记障碍特征的患者.
为了评估GS的诊断产量,患者先前对印记障碍的检测结果为负.

主要方法:

简读基因组测序 (GS) 在48名具有SRS (n=37) 和BWS (n=11) 特征的患者中进行.
参与该研究的患者之前对已知印记障碍的检测结果呈阴性.

主要成果:

基因组测序在51%的患有SRS特征的患者中发现了遗传原因.
在使用GS的BWS特征患者中没有检测到任何致病变体.
GS显著提高了SRS的诊断产量,并确定了更广泛的重叠疾病谱.

结论:

基因组测序是一种有价值的二级诊断工具,用于患有暗示印记障碍的生长障碍的患者.
通过GS进行精确的分子诊断,可以实现个性化的临床管理.
GS针对各种变体类型,可能会缩短未诊断患者的诊断旅程.

关键词:

贝克维思维德曼综合症贝克维斯维德曼综合症银拉塞尔综合征诊断产出率是指诊断产出率是指诊断产出率.基因组测序是指对基因组进行测序.

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