Fig. 3

Analysis of the PI4KA variant c.2802_2863-40del in the pMini-CopGFP Vector. (A) Schematic representation of the genomic DNA fragment cloned into the pMini-CopGFP Vector, including Exon 23, Intron 23, Exon 24, Intron 24, Exon 25, Intron 25, and Exon 26 for both the wild type (WT) and the mutant (Mut) PI4KA variant. (B) Agarose gel electrophoresis of RT-PCR products. Lane 1: Wild type, showing a single band at 367 bp. Lane 2: Mutant type, showing two bands at 345 bp and 296 bp, indicating alternative splicing events. (C-E) Sanger sequencing of the WT and mutant PI4KA variants. Normal splicing in the WT type. (D) Deletion of Exon 24 in the mutant type. (E) Insertion of Intron 24 in the mutant type. (F) Splicing schematic diagram illustrating the normal and abnormal splicing events in the WT and mutant PI4KA variants. The expected sizes of the splicing products are indicated