Identification of the mutation in the ASL gene in patient with Argininosuccinic aciduria disorder in Southwest Iran

Publish Year: 1397
نوع سند: مقاله کنفرانسی
زبان: English
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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.

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