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结合染色体微阵列和临床外体序列测序来进行智力障碍的遗传诊断

Jaewon Kim^1,2, Jaewoong Lee^3,2, Dae-Hyun Jang^4,5

¹Department of Physical Medicine and Rehabilitation, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Scientific reports

|December 22, 2023

概括

染色体微阵列分析 (CMA) 和临床外基因组测序 (CES) 为无法解释的儿科智力障碍 (ID) 提供了类似的诊断产量. 临床特征,如运动延迟和面部形,显著增加了ID儿童的诊断率.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
临床诊断临床诊断临床诊断

背景情况:

尽管目前的遗传检测方法,儿童的智力障碍 (ID) 诊断往往仍然无法解释.
染色体微阵列分析 (CMA) 和外基因组/基因组测序被广泛使用,但在诊断产量和指南定义方面面临挑战.

研究的目的:

评估同步CMA和临床外体序列测序 (CES) 在儿童的诊断产量.
调查临床表型与儿科ID诊断产量之间的相关性.

主要方法:

一项队列研究,包括154名患有不明原因ID的儿童.
使用CMA和CES进行了并发分析.
分析了诊断产量及其与特定临床特征的关联.

主要成果:

整体诊断收益率在26.0%至33.8%之间.
CMA产生了12.3-14.3%的诊断,而CES产生了13.6-19.4%,两者之间没有显著差异.
在表现为总运动延迟,面部形,先天性结构异常或头部周长异常 (小头/大头) 的患者中观察到更高的诊断率.
患有ID且没有其他表型的儿童的诊断收益率为6.3-11.1%.

结论:

同时的CMA和CES为无法解释的儿科ID提供了可比的诊断产量.
特定的临床表型的存在显著提高了ID的基因测试的诊断成功率.
需要进一步的研究来完善基因测试的指导方针在儿科ID基于临床表现.

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