Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency

doi:10.1155/2019/3530198

	Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
	Zhao, Mei1 ; Hou, Lingling 2; Teng, Huajing 2; Li, Jinchen 2; Wang, Jiesi1 ; Zhang, Kunlin1 ; Yang, Lin 3
通讯作者	Zhao, Mei(zhaomei@psych.ac.cn) ; Yang, Lin(yanglin18@hotmail.com)
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.
	2019
语种	英语
DOI	10.1155/2019/3530198
发表期刊	BIOMED RESEARCH INTERNATIONAL
ISSN	2314-6133
页码	7
收录类别	SCI ; SCI
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]
出版者	HINDAWI LTD
WOS关键词	POLYMORPHISMS ; MUTATIONS ; GENOME
WOS研究方向	Biotechnology & Applied Microbiology ; Research & Experimental Medicine
WOS类目	Biotechnology & Applied Microbiology ; Medicine, Research & Experimental
WOS记录号	WOS:000473391600001
资助机构	National Natural Science Foundation of China
引用统计
文献类型	期刊论文
条目标识符	http://ir.psych.ac.cn/handle/311026/29142
专题	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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