• Samaneh Markazi, Majid Kheirollahi, Abbas Doosti, and Mehrdad Mohammadi.
• Department of Molecular Genetics, Faculty of Basic Sciences, Shahrekord Branch, Islamic Azad University, Sahrekord, Iran.
• J Res Med Sci. 2017 Jan 1; 22: 33.

BackgroundConsidering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1.Materials And MethodsIn this study, exons 1, 3, and 8 of SLC3A1 gene of 25 unrelated cystinuria patients searched for genetic variations by polymerase chain reaction and sequencing.ResultsThere were five different variations in our studied population. We found one mutation in the SLC3A1 gene including missense variant M467K and identified three polymorphisms: nonsynonymous variant G38G, c. 610 + 169C>T and c. 610 + 147C>G within the SLC3A1 gene, and one new variant.ConclusionOur results confirm that cystinuria is a heterogeneous disorder at the molecular level and more studies are needed to identify the distribution and frequency of mutations causing cystinuria in the Iranian population.

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