| 一例Nicolaides-Baraitser综合征的临床与遗传学分析 |
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| 引用本文： | 马燕燕,于春梅,张开慧,金瑞峰,律玉强,高敏,盖中涛,刘毅. 一例Nicolaides-Baraitser综合征的临床与遗传学分析[J]. 中华医学遗传学杂志, 2020, 0(2): 147-149 |
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| 作者姓名： | 马燕燕 于春梅 张开慧 金瑞峰 律玉强 高敏 盖中涛 刘毅 |
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| 作者单位： | 山东大学齐鲁儿童医院儿科研究所;山东大学齐鲁儿童医院神经内科 |
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| 摘 要： | 目的探讨1例表现为癫痫、语言发育迟缓、智力发育轻度迟缓的女性患儿的遗传学病因。方法采集患儿及其父母的外周血样并提取基因组DNA,应用高通量测序技术对患儿进行检测,对疑似致病变异进行Sanger测序验证及生物信息学分析。结果测序结果显示患儿SMARCA2基因存在c.3592 G>A(p.V1198M)杂合变异,生物信息学分析预测其为致病性;在患儿父母的外周血DNA中未发现相同的变异。结论该患儿被确诊为SMARCA2基因杂合变异所致的Nicolaides-Baraitser综合征。
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| 关 键 词： | Nicolaides-Baraitser综合征 SMARCA2基因 高通量测序 |
Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome |
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| Ma Yanyan,Yu Chunmei,Zhang Kaihui,Jin Ruifeng,Lyu Yuqiang,Gao Min,Gai Zhongtao,Liu Yi. Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome[J]. Chinese journal of medical genetics, 2020, 0(2): 147-149 |
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| Authors: | Ma Yanyan Yu Chunmei Zhang Kaihui Jin Ruifeng Lyu Yuqiang Gao Min Gai Zhongtao Liu Yi |
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| Affiliation: | (Pediatric Research Institute,Qilu Children's Hospital of Shandong University,Jinan,Shandong 250022,China;Department of Neurology,Qilu Children's Hospital of Shandong University,Jinan'Shandong 250022,China) |
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| Abstract: | Objective To explore the genetic etiology of a girl featuring epilepsy,speech delay and mild mental retardation.Methods Peripheral blood samples of the child and her parents were collected.Genomic DNA was extracted and subjected to next generation sequencing.Suspected variant was confirmed by Sanger sequencing.Results The child was found to carry a de novo heterozygous c.3592G>A(p.V1198M)variant of the SMARCA2 gene,which was predicted to be pathogenic by bioinformatic analysis.Conclusion The child was diagnosed with Nicolaides-Baraitser syndrome due to heterozygous variant of the SMARCA2 gene. |
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| Keywords: | Nicolaides-Baraitser syndrome SMARCA2 gene Next generation sequencing |
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