Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
Joint Authors
Zhao, Mei
Hou, Lingling
Teng, Huajing
Li, Jinchen
Wang, Jiesi
Zhang, Kunlin
Yang, Lin
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-04-30
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Zhao, Mei& Hou, Lingling& Teng, Huajing& Li, Jinchen& Wang, Jiesi& Zhang, Kunlin…[et al.]. 2019. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency. BioMed Research International،Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1124644
Modern Language Association (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 No. 2019 (2019), pp.1-7.
https://search.emarefa.net/detail/BIM-1124644
American Medical Association (AMA)
Zhao, Mei& Hou, Lingling& Teng, Huajing& Li, Jinchen& Wang, Jiesi& Zhang, Kunlin…[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. Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1124644
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1124644