Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study

Considering 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.
In 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.
There 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.
Our 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.