Fig. 3: Disease-causing splicing variants in PKD1 intron 37.
From: Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
A Pedigrees and renal ultrasound images from RBW403 demonstrating bilateral kidney cysts. B Natural splicing of exons 37, 38, and 39 of PKD1, depicting that skipping of exon 38 naturally occurs at a low level. C RT-PCR studies and Sanger sequencing of RT-PCR product in RBW403, RPA028, and RPA014. Additional bands are demonstrated in the affected individuals compared with controls, consistent in size with skipping of exon 38 and partial retention of exon 37. This is also reflected in Sanger sequencing of the RT-PCR product. Low-level skipping of exon 38 is evident in the controls. D Illustration of the splicing impact of the different variants identified in exon 37 across the cohort. All three variants result in the skipping of exon 38 and, less frequently, partial retention of exon 37 due to the use of an upstream cryptic splice site.
