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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
Mei Zhao1; Lingling Hou2; Huajing Teng2; Jinchen Li2; JiesiWang1; Kunlin Zhang1; Lin Yang3
First AuthorMei Zhao
2019
Source PublicationBioMed Research International
Correspondent Emailmei zhao( zhaomei@psych.ac.cn) ; lin yang( yanglin18@hotmail.com)
SubtypeArticle
Pages1-9
QuartileQ2
Contribution Rank1
Abstract

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 activitywas 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

Indexed BySCI
Language英语
Document Type期刊论文
Identifierhttp://ir.psych.ac.cn/handle/311026/29142
Collection中国科学院心理健康重点实验室
Corresponding AuthorMei Zhao; Lin Yang
Affiliation1.Key Lab of Mental Health, Institute of Psychology, Chinese Academy of Sciences
2.Beijing Institutes of Life Science, Chinese Academy of Sciences
3.Department of Pediatrics, Second Affiliated Hospital of Xi’an Jiaotong University
First Author AffilicationInstitute of Psychology, Chinese Academy of Sciences
Corresponding Author AffilicationInstitute of Psychology, Chinese Academy of Sciences
Recommended Citation
GB/T 7714
Mei Zhao,Lingling Hou,Huajing Teng,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,2019:1-9.
APA Mei Zhao.,Lingling Hou.,Huajing Teng.,Jinchen Li.,JiesiWang.,...&Lin Yang.(2019).Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.BioMed Research International,1-9.
MLA Mei Zhao,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):1-9.
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