PMC9947648_01
Clinical images, minigene structure and sequencing results. (A) Patient pictures. (B) Schematic representation of the wt genomic region cloned in pSPL3 corresponding to the portion of intron 26, exon 27 and intron 27 cloned in pSPL3, and of the construct with the A > G transition (vertical line). On the side is represented the effect on splicing of the wt construct and of the variant construct; in the latter case resulting in partial intron retention (in red) and a premature stop codon, as shown by the respective chromatograms. (C) Schematic of the strategy to amplify the pathologically spliced allele on patient's cDNA, and chromatogram showing the retention of a part of intron 27.
fgene-14-1082100-g001.jpg
PMC9947648_01_fgene-14-1082100-g001.jpg
F1
A c.5607+17A>G heterozygous variant in intron 27 (NM_017780.4) was identified (Figure 1). Sequencing via Sanger method identified the c.5607+17A>G intronic variant (Figure 1).