Pathologic mutations in the genes that code for riboflavin transporters have been identified as the genetic basis of RTD, and the majority of the genetically confirmed cases are caused by mutations of SLC52A3, a riboflavin transporter 2 coding gene or compound mutations in SLC52A2, encoding riboflavin transporter 3. This evidence concerns the gene SLC52A3 and renal tubular dysgenesis of genetic origin.