三人家系全外显子组测序在中国癫痫患儿遗传诊断与治疗中的应用_表2

数据集获取（Figshare）

• 源站标题：Table_2_Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.XLSX
• DOI：10.3389/fnmol.2021.699574.s002
• 发布日期：2021-08-19
• 文件数：1 个
• 文件总体积：59.30 KB
• 源站页面：https://frontiersin.figshare.com/articles/dataset/Table_2_Application_of_Trio-Whole_Exome_Sequencing_in_Genetic_Diagnosis_and_Therapy_in_Chinese_Children_With_Epilepsy_XLSX/15372333

命令行下载

curl -L -o "Table_2_Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.XLSX" "https://ndownloader.figshare.com/files/29355843"

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• Table_2_Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.XLSX（59.30 KB）

文件总体积 59.30 KB（源站 API 实测）。

数据说明

Epilepsy is one of the most common neurological disorders in pediatric patients with other underlying neurological defects. Identifying the underlying etiology is crucial for better management of the disorder. We performed trio-whole exome sequencing in 221 pediatric patients with epilepsy. Probands were divided into seizures with developmental delay/intellectual disability (DD/ID) and seizures without DD/ID groups. Pathogenic (P) or likely pathogenic (LP) variants were identified in 71/110 (64.5%) patients in the seizures with DD/ID group and 21/111 (18.9%) patients in the seizures without DD/ID group (P < 0.001). Eighty-seven distinct P/LP single nucleotide variants (SNVs)/insertion deletions (Indels) were detected, with 55.2% (48/87) of them being novel. All aneuploidy and P/LP copy number variants (CNVs) larger than 100 Kb were identifiable by both whole-exome sequencing and copy number variation sequencing (CNVseq) in 123 of individuals (41 pedigrees). Ten of P/LP CNVs in nine patients and one aneuploidy variant in one patient (Patient #56, #47, XXY) were identified by CNVseq. Herein, we identified seven genes (NCL, SEPHS2, PA2G4, SLC35G2, MYO1C, GPR158, and POU3F1) with de novo variants but unknown pathogenicity that were not previously associated with epilepsy. Potential effective treatment options were available for 32 patients with a P/LP variant, based on the molecular diagnosis. Genetic testing may help identify the molecular etiology of early onset epilepsy and DD/ID and further aid to choose the appropriate treatment strategy for patients.

许可

CC BY 4.0

引用

学术使用请引用 DOI 10.3389/fnmol.2021.699574.s002（source: https://frontiersin.figshare.com/articles/dataset/Table_2_Application_of_Trio-Whole_Exome_Sequencing_in_Genetic_Diagnosis_and_Therapy_in_Chinese_Children_With_Epilepsy_XLSX/15372333）。