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临床应用CNV-seq用于诊断儿童大脑发育异常的临床应用

Shaohua Zhu^1,2, Shibing Cheng², Chunyang Jia¹

¹Medical Genetic Centre, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital), Lanzhou, 730050, China.

Scientific reports

|September 29, 2025

概括

副本数变异测序 (CNV-Seq) 有效地诊断儿童异常大脑发育 (ABD) 的遗传原因. 该研究发现,综合征病例中病原性复制数变异的检测率更高,这凸显了对非综合征病例需要增加关注的必要性.

科学领域:

医学遗传学医学遗传学
儿科神经学儿科神经学
基因组医学是基因组医学.

背景情况:

异常大脑发育 (ABD) 在儿科患者中构成重大诊断挑战.
确定遗传病因对于准确的诊断,预后和管理至关重要.
副本数变异测序 (CNV-Seq) 是检测遗传异常的一个新兴工具.

研究的目的:

评估CNV-Seq在患有ABD的儿科患者的诊断效用.
为了比较综合征 (S-ABD) 和非综合征 (NS-ABD) 组之间的遗传异常检测率.
评估CNV-Seq发现对患者管理的临床影响.

主要方法:

对130名被诊断患有ABD的儿科患者进行了回顾性分析.
分类为综合征 (S-ABD) 和非综合征 (NS-ABD) 组.
应用CNV-Seq来识别染色体形状和拷贝数变异 (CNVs).

主要成果:

总体而言,32.3%的患者有可检测的遗传异常,包括动脉和CNS.
与NS-ABD组 (26.7%) 相比,S-ABD组的病原性CNV (pCNV) 检测明显高 (70.4%).
非综合征性ABD病例显示出更高比例的不确定的意义变异 (VUS) 和较低的阳性检测率,构成低诊断的风险.

结论:

CNV-Seq是儿科ABD的宝贵诊断工具,在综合征病例中产量很高.
在NS-ABD患者中较低的检测率强调了需要仔细的临床评估和潜在的先进遗传测试的必要性.
改进的遗传咨询和及时的产前诊断对于ABD患者的更好的临床结果至关重要.

关键词:

大脑发育异常 (ABD)形积分症 (Aneuploidy) 是一种无形积分症.在CNV-seqq.副本数量变化 (CNV) 的变化

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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...