case_images: PMC11744307_01
case_images: Verification of the effects of NUP160 c.1102-9T>G on mRNA splicing. (a) The WT appears as a single band while the mutant NUP160 generates three bands in the minigene splicing assay. (b) Sanger Sequencing image of the gel recovery products in (a) confirms the WT mRNA splicing product includes exons 7, 8, and 9 without any abnormal splicing events. By contrast, the NUP160 c.1102-9T>G mutation leads to two additional abnormal splicing products: one with a partial deletion of exon 8 (c.1102_1116del) and another with an insertion (c.1102-30_1102-1 ins) between exons 7 and 8.
case_images: sfae388fig1.jpg
case_images: PMC11744307_01_sfae388fig1.jpg
case_images: fig1
case_images: Polymerase chain reaction and gel electrophoresis revealed one band in the WT and three bands in the mutant cells (Fig. 1a). Sanger sequencing of the products was performed to identify the exact splicing alterations (Fig. 1b).