We investigated the genetic variants of MR-1 , SLC2A1 , and CLCN1 , which are the causative genes of PNKD, PED, and myotonia congenita (MC), respectively, in these cases.
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].
The patient (patient 17) with SLC2A1 c.363G>A mutation was a 15-year-old girl, who had 8 years history of dystonia triggered by sudden movement.
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.