The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders

拷贝数变化 外显子组测序 医学 DNA测序 外显子组 计算生物学 生物信息学 遗传学 基因 生物 突变 基因组
作者
Qingguo Jiao,Haiming Sun,Haoya Zhang,Ran Wang,Suting Li,Dan Sun,Xiu‐An Yang,Yan Jin
出处
期刊:Clinical Genetics [Wiley]
卷期号:96 (2): 140-150 被引量:28
标识
DOI:10.1111/cge.13548
摘要

Abstract This retrospective study aims to investigate the diagnostic yields of multiple strategies of next‐generation sequencing (NGS) for children with rare neurological disorders (NDs). A total of 220 pediatric patients with NDs who visited our hospital between Jan 2017 and Dec 2018 and had undergone NGS were included. Most patients were 5 years old or younger, and the number of patients visiting the hospital decreased with age. Seizures were the most common symptom in this cohort. The positive rates for targeted NGS panels (Panel), whole‐exome sequencing (WES), and copy number variation sequencing (CNVseq) were 26.5% (9/34), 36.6% (63/172), and 16.7% (22/132), respectively. The positive rate for patients undergoing a combination of WES and CNVseq (WES + CNVseq) was 47.8% (54/113), which was significantly better than the positive rate for patients who underwent WES alone (32.7%, 37/113). A total of 83 variants were found in 42 genes, and SCN1A was the most frequently mutanted gene. Twenty‐four CNVs were identified in 22 patients: two CNVs were inherited from the mother; 12 CNVs were de novo; and the CNV origins could not be determined in 10 patients. WES + CNVseq may potentially be the mostly effective NGS approach for diagnosis of rare NDs in pediatric patients.
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