Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
文献类型：期刊论文
| 作者 | Zhao, Mei1 ; Hou, Lingling2; Teng, Huajing2; Li, Jinchen2; Wang, Jiesi1; Zhang, Kunlin1; Yang, Lin3
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| 刊名 | BIOMED RESEARCH INTERNATIONAL
 |
| 出版日期 | 2019 |
| 页码 | 7 |
| ISSN号 | 2314-6133 |
| DOI | 10.1155/2019/3530198 |
| 通讯作者 | Zhao, Mei(zhaomei@psych.ac.cn) ; Yang, Lin(yanglin18@hotmail.com) |
| 英文摘要 | Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosuccinate lyase deficiency (ASLD); therefore, sequencing analysis offers advantages for prenatal testing and counseling in families afflicted with this condition. Here, we performed a genetic analysis of an ASLD patient and his family with an aim to offer available information for clinical diagnosis. The research subjects were a 23-month-old patient with a high plasma level of citrulline and his unaffected parents. Whole-exome sequencing identified potential related ASL gene mutations in this trio. Enzymatic activity was detected spectrophotometrically by a coupled assay using arginase and measuring urea production. We identified a novel nonsynonymous mutation (c.206A>G, p.Lys69Arg) and a stop mutation (c.637C>T, p.Arg213) in ASL in a Chinese Han patient with ASLD. The enzymatic activity of a p.Lys69Arg ASL construct in human embryonic kidney 293T cells was significantly reduced compared to that of the wild-type construct, and no significant activity was observed for the p.Arg213 construct. Compound heterozygous p.Lys69Arg and p.Arg213 mutations that resulted in reduced ASL enzyme activity were found in a patient with ASLD. This finding expands the clinical spectrum of ASL pathogenic variants. |
| WOS关键词 | POLYMORPHISMS ; MUTATIONS ; GENOME |
| 资助项目 | National Natural Science Foundation of China[91132728] ; National Natural Science Foundation of China[31470070] ; National Natural Science Foundation of China[30973224] |
| WOS研究方向 | Biotechnology & Applied Microbiology ; Research & Experimental Medicine |
| 语种 | 英语 |
| WOS记录号 | WOS:000473391600001 |
| 出版者 | HINDAWI LTD |
| 资助机构 | National Natural Science Foundation of China |
| 源URL | [http://ir.psych.ac.cn/handle/311026/29142]  |
| 专题 | 心理研究所_中国科学院心理健康重点实验室 |
| 通讯作者 | Zhao, Mei; Yang, Lin |
| 作者单位 | 1.Chinese Acad Sci, Inst Psychol, Key Lab Mental Hlth, 4A Datun Rd, Beijing 100101, Peoples R China 2.Chinese Acad Sci, Beijing Inst Life Sci, Beijing 100101, Peoples R China 3.Xi An Jiao Tong Univ, Affiliated Hosp 2, Dept Pediat, Xian, Shaanxi, Peoples R China |
| 推荐引用方式 GB/T 7714 | Zhao, Mei,Hou, Lingling,Teng, Huajing,et al. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency[J]. BIOMED RESEARCH INTERNATIONAL,2019:7. |
| APA | Zhao, Mei.,Hou, Lingling.,Teng, Huajing.,Li, Jinchen.,Wang, Jiesi.,...&Yang, Lin.(2019).Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.BIOMED RESEARCH INTERNATIONAL,7. |
| MLA | Zhao, Mei,et al."Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency".BIOMED RESEARCH INTERNATIONAL (2019):7. |
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来源：心理研究所
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