Fig. 3: Overview of splice defects caused by ABCA4 c.859-442C>T variant in HEK293T cells. | Eye

Fig. 3: Overview of splice defects caused by ABCA4 c.859-442C>T variant in HEK293T cells.

From: Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach

Fig. 3

A Wild-type and mutant midigenes assay results. Rhodopsin exon 5 (RHO ex5) RT-PCR was used as a control for transfection efficiency. To the right, schematic representation of WT midigene (BA7_WT), in which the position of the variant is indicated with an arrow and the forward (fwd) and reverse (rev) primers used for PCR amplification are depicted as triangles. Beneath, schematic representation of the four RT-PCR products identified in panel, heteroduplex bands are labelled with an asterisk. ABCA4 c.859-442C>T variant leads to the inclusion of a 238 nt long pseudoexon (PE) in intron 7 (Fragment 1), exon 8 skipping (Fragment 3), exon 8 to 10 skipping (Fragment 4) and WT product (Fragment 2). B The chromatograms show the exact exonic and intronic breakpoints in the four fragments as confirmed by Sanger sequencing.

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