Identification of the mutation in the ASL gene in patient with Argininosuccinic aciduria disorder in Southwest Iran
Publish place: The Third International and 15th National Genetics Congress
Publish Year: 1397
نوع سند: مقاله کنفرانسی
زبان: English
View: 479
نسخه کامل این Paper ارائه نشده است و در دسترس نمی باشد
- Certificate
- من نویسنده این مقاله هستم
استخراج به نرم افزارهای پژوهشی:
شناسه ملی سند علمی:
CIGS15_341
تاریخ نمایه سازی: 13 بهمن 1398
Abstract:
Introduction: Argininosuccinic aciduria is an autosomal recessive genetic disorder of the urea cycle. It caused by mutations in the ASL gene (OMIM 608310). This gene encodes Argininosuccinate lyase enzyme. This enzyme catalyzes the reversible breakdown of argininosuccinate to arginine and fumarate that leads to hyperammonemia, accumulation of argininosuccinic acid in body fluids.Methods: In the present study, Sanger sequencing of the whole ASL gene was performed in the patient with hyperammonemia and Parents. Results: A homozygous mutation c.706C> T (p.R236W) has been identified in this patient. Parents were heterozygous for the same missense mutation. Therefore, 50 normal individuals were analyzed for this change with negative results. Conclusions: The mutation was found to be reported for the first time in Argininosuccinic aciduria patients in Southwest Iran. This mutation was predicted disease-causing by bioinformatics analysis and it was previously reported to affect the active site of the enzyme. Therefore, p.R236W may be useful in the clinical detection of Argininosuccinic aciduria in Iranian patient.
Keywords:
Authors
Seyedeh Zohreh Azarshin
Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran
Mina Zamani
Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran
Tahereh Yadegari
Narges Genetics Diagnostic Laboratory, Ahvaz, Iran
Emad Jahangirnezhad
Narges Genetics Diagnostic Laboratory, Ahvaz, Iran
Moslem Sarvari
Narges Genetics Diagnostic Laboratory, Ahvaz, Iran
Javaher Zeighami
Narges Genetics Diagnostic Laboratory, Ahvaz, Iran