Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy
ObjectiveEpilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) has emerged as a robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based sequencing techniques.MethodsExome-based epi...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1496411/full |
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| author | Huafang Zou Huafang Zou Qian Zhang Jianxiang Liao Jianxiang Liao Dongfang Zou Zhanqi Hu Bing Li Li Chen Jialun Wen Xia Zhao Victor Wei Zhang Dezhi Cao Dezhi Cao |
| author_facet | Huafang Zou Huafang Zou Qian Zhang Jianxiang Liao Jianxiang Liao Dongfang Zou Zhanqi Hu Bing Li Li Chen Jialun Wen Xia Zhao Victor Wei Zhang Dezhi Cao Dezhi Cao |
| author_sort | Huafang Zou |
| collection | DOAJ |
| description | ObjectiveEpilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) has emerged as a robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based sequencing techniques.MethodsExome-based epilepsy panel tests, clinical exome sequencing (CES), and whole exome sequencing (WES) were conducted on 259 pediatric patients diagnosed with epilepsy. Single-nucleotide variants (SNVs) and copy number variants (CNVs) were interpreted based on each patient’s phenotypic presentation. Additionally, data concerning clinical symptoms, neuroimaging findings, treatment responses, and prognostic outcomes were collected and analyzed.ResultsThe overall diagnostic yield was 32.8% (85/259), with a diagnostic yield of 40.0% for exome-based epilepsy panels, 30.1% for CES, and 27.8% for WES. We identified 82 cases with pathogenic or likely pathogenic SNVs and 4 cases with pathogenic CNVs, of which one case with both SNV and CNV. The most frequently detected gene was PRRT2, present in 10.0% (9/82) of cases. Epileptic syndromes were diagnosed in 66 patients, predominantly West Syndrome, Dravet Syndrome and Genetic Epilepsy with Febrile Seizures plus.ConclusionNGS is an effective method for uncovering the genetic foundations of pediatric epilepsy, with diagnostic yields varying based on the sequencing approach used. The growing preference for WES underscores its utility in complex cases, pointing to a trend towards more tailored diagnostic strategies. |
| format | Article |
| id | doaj-art-f1bdc39103c64d2e9bd083eda17319f3 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-f1bdc39103c64d2e9bd083eda17319f32025-01-21T08:36:44ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011510.3389/fgene.2024.14964111496411Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsyHuafang Zou0Huafang Zou1Qian Zhang2Jianxiang Liao3Jianxiang Liao4Dongfang Zou5Zhanqi Hu6Bing Li7Li Chen8Jialun Wen9Xia Zhao10Victor Wei Zhang11Dezhi Cao12Dezhi Cao13Department of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDivision of Epilepsy Surgery, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Genomic Medicine, AmCare Genomics Lab, Guangzhou, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDivision of Epilepsy Surgery, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Genomic Medicine, AmCare Genomics Lab, Guangzhou, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDivision of Epilepsy Surgery, Shenzhen Children’s Hospital, Shenzhen, ChinaObjectiveEpilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) has emerged as a robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based sequencing techniques.MethodsExome-based epilepsy panel tests, clinical exome sequencing (CES), and whole exome sequencing (WES) were conducted on 259 pediatric patients diagnosed with epilepsy. Single-nucleotide variants (SNVs) and copy number variants (CNVs) were interpreted based on each patient’s phenotypic presentation. Additionally, data concerning clinical symptoms, neuroimaging findings, treatment responses, and prognostic outcomes were collected and analyzed.ResultsThe overall diagnostic yield was 32.8% (85/259), with a diagnostic yield of 40.0% for exome-based epilepsy panels, 30.1% for CES, and 27.8% for WES. We identified 82 cases with pathogenic or likely pathogenic SNVs and 4 cases with pathogenic CNVs, of which one case with both SNV and CNV. The most frequently detected gene was PRRT2, present in 10.0% (9/82) of cases. Epileptic syndromes were diagnosed in 66 patients, predominantly West Syndrome, Dravet Syndrome and Genetic Epilepsy with Febrile Seizures plus.ConclusionNGS is an effective method for uncovering the genetic foundations of pediatric epilepsy, with diagnostic yields varying based on the sequencing approach used. The growing preference for WES underscores its utility in complex cases, pointing to a trend towards more tailored diagnostic strategies.https://www.frontiersin.org/articles/10.3389/fgene.2024.1496411/fullepilepsyseizurenext-generation sequencingwhole exome sequencinggenetic diagnosis |
| spellingShingle | Huafang Zou Huafang Zou Qian Zhang Jianxiang Liao Jianxiang Liao Dongfang Zou Zhanqi Hu Bing Li Li Chen Jialun Wen Xia Zhao Victor Wei Zhang Dezhi Cao Dezhi Cao Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy Frontiers in Genetics epilepsy seizure next-generation sequencing whole exome sequencing genetic diagnosis |
| title | Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy |
| title_full | Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy |
| title_fullStr | Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy |
| title_full_unstemmed | Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy |
| title_short | Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy |
| title_sort | diagnostic efficiency of exome based sequencing in pediatric patients with epilepsy |
| topic | epilepsy seizure next-generation sequencing whole exome sequencing genetic diagnosis |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1496411/full |
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