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学科主题: 临床医学
题名:
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities
作者: Zhang, Yujia1,2,3; Kong, Weijing1,2; Gao, Yang4; Liu, Xiaoyan1,2; Gao, Kai1,2; Xie, Han1,2; Wu, Ye1,2; Zhang, Yuehua1,2; Wang, Jingmin1,2; Gao, Feng5; Wu, Xiru1,2; Jiang, Yuwu1,2,3
刊名: PLoS One
发表日期: 2015-11-06
DOI: 10.1371/journal.pone.0141782
卷: 10, 期:11
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: MIGRATING PARTIAL SEIZURES ; CHILDHOOD-ONSET EPILEPSY ; BETA-SUBUNIT ; K+ CHANNELS ; POTASSIUM ; INACTIVATION ; INFANCY ; ENCEPHALOPATHY ; PRODUCT ; KCNA1B
英文摘要:

Objective

Epilepsy and intellectual/developmental disabilities (ID/DD) have a high rate of co-occurrence. Here, we investigated gene mutations in Chinese children with unexplained epilepsy and ID/DD.

Methods

We used targeted next-generation sequencing to detect mutations within 300 genes related to epilepsy and ID/DD in 253 Chinese children with unexplained epilepsy and ID/DD. A series of filtering criteria was used to find the possible pathogenic variations. Validation and parental origin analyses were performed by Sanger sequencing. We reviewed the phenotypes of patients with each mutated gene.

Results

We identified 32 novel and 16 reported mutations within 24 genes in 46 patients. The detection rate was 18% (46/253) in the whole group and 26% (17/65) in the early-onset (before three months after birth) epilepsy group. To our knowledge, we are the first to report KCNAB1 is a disease-causing gene of epilepsy by identifying a novel de novo mutation (c. 1062dupCA p.Leu355HisfsTer5) within this gene in one patient with early infantile epileptic encephalopathy (EIEE). Patients with an SCN1A mutation accounted for the largest proportion, 17% (8/46). A total of 38% (9/24) of the mutated genes re-occurred at least 2 times and 63% (15/24) occurred only one time. Ion channel genes are the most common (8/24) and genes related to synapse are the next most common to occur (5/24).

Significance

We have established genetic diagnosis for 46 patients of our cohort. Early-onset epilepsy had the highest detection rate. KCNAB1 mutation was first identified in EIEE patient. We expanded the phenotype and mutation spectrum of the genes we identified. The mutated genes in this cohort are mostly isolated. This suggests that epilepsy and ID/ DD phenotypes occur as a consequence of brain dysfunction caused by a highly diverse population of mutated genes. Ion channel genes and genes related to synapse were more common mutated in this patient cohort.

语种: 英语
所属项目编号: 2012CB944602 ; 2012CB944602 ; BIBDPXM2014_014226_000016 ; 7151010
项目资助者: National Key Research Project ; Beijing Institute for Brain Disorders, the National Key Research Project ; Beijing Institute for Brain Disorders Foundation ; grant for Beijing Key Laboratory of Pediatric Genetic Disease ; Key Project of Beijing Natural Science Foundation
WOS记录号: WOS:000364398700045
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51338
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Beijing Inst Brain Disorders, Ctr Epilepsy, Beijing, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
3.Peking Univ, Hosp 1, Pediat Epilepsy Ctr, Beijing 100871, Peoples R China
4.Dalian Med Univ, Hosp 2, Dept Neurosurg, Dalian, Peoples R China
5.Zhejiang Univ, Childrens Hosp, Sch Med, Hangzhou, Zhejiang, Peoples R China

Recommended Citation:
Zhang, Yujia,Kong, Weijing,Gao, Yang,et al. Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities[J]. PLoS One,2015,10(11).
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