All exons of the targeted genes ( MR-1 , SLC2A1 , and CLCN1 ) and their respective intron-exon boundaries were amplified by the polymerase chain reaction (PCR).
After sequencing in the 28 patients with presumptive diagnosis of sporadic PKD, we identified 16 genetic variants, including 4 in MR-1 gene, 8 in SLC2A1 gene, and 4 in CLCN1 gene [Table 2].
In the present study, we screened MR-1 , SLC2A1 , and CLCN1 genes in 28 patients who were diagnosed with sporadic PKD but not carrying PRRT2 mutations.
We identified SLC2A1 and CLCN1 mutations in three patients who were diagnosed with PKD.
In summary, we identified SLC2A1 and CLCN1 mutations in three cases who were diagnosed with PKD.