Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
| Autor: | nianji zhan, Haisheng Yan, Ying Yang, Lin Wang, Jing Duan, Zhenzhen Yin, Jianbiao Li, Hongdou Xiao, Jing Zhou, Yushan Huang, Tongda Zhang, Fang Chen, Dongfang Zou, Jianxiang Liao, Feiqiu Wen, Jian Guo, Jingyu Ye, Shida Zhu |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
China Adolescent DNA Copy Number Variations Genotype Genetic counseling seizure Polymorphism Single Nucleotide DNA sequencing Epilepsy Dravet syndrome Asian People Exome Sequencing Medicine Humans Genetic Predisposition to Disease Copy-number variation Genetic Testing Child single-nucleotide variants Genetic testing Genetics Benign familial infantile epilepsy medicine.diagnostic_test business.industry AcademicSubjects/SCI01870 Infant Newborn Infant Original Articles medicine.disease genome sequencing Child Preschool Female AcademicSubjects/MED00310 Neurology (clinical) business Genome-Wide Association Study copy number variants |
| Zdroj: | Brain |
| ISSN: | 1460-2156 0006-8950 |
| Popis: | The aim of this study is to evaluate the diagnostic value of genome sequencing in children with epilepsy, and to provide genome sequencing-based insights into the molecular genetic mechanisms of epilepsy to help establish accurate diagnoses, design appropriate treatments and assist in genetic counselling. We performed genome sequencing on 320 Chinese children with epilepsy, and interpreted single-nucleotide variants and copy number variants of all samples. The complete pedigree and clinical data of the probands were established and followed up. The clinical phenotypes, treatments, prognoses and genotypes of the patients were analysed. Age at seizure onset ranged from 1 day to 17 years, with a median of 4.3 years. Pathogenic/likely pathogenic variants were found in 117 of the 320 children (36.6%), of whom 93 (29.1%) had single-nucleotide variants, 22 (6.9%) had copy number variants and two had both single-nucleotide variants and copy number variants. Single-nucleotide variants were most frequently found in SCN1A (10/95, 10.5%), which is associated with Dravet syndrome, followed by PRRT2 (8/95, 8.4%), which is associated with benign familial infantile epilepsy, and TSC2 (7/95, 7.4%), which is associated with tuberous sclerosis. Among the copy number variants, there were three with a length Zou et al. perform whole genome sequencing in 320 Chinese children with epilepsy, and investigate single nucleotide variants and copy number variants in all individuals. The results confirm the value of whole genome sequencing as a first-tier diagnostic test for patients with epilepsy. |
| Databáze: | OpenAIRE |
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