Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
المؤلفون المشاركون
Zhao, Mei
Hou, Lingling
Teng, Huajing
Li, Jinchen
Wang, Jiesi
Zhang, Kunlin
Yang, Lin
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-04-30
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1124644
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر