Fig. 4: c.765G>A (p.(Thr255Thr)) variant pathogenic role definition by transcript analysis.
From: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
A RT-PCR was performed on the endogenous COL4A3 gene using RNA from patients-derived podocytes-lineage cells. Diagrams beside each PCR product represent the structure of detected transcripts, with arrowheads indicating the location of primers (left side). C The transcript analysis allows us to conclude about the pathogenic effect of the variant leading to the exon 13 skipping, resulting in an in-frame deletion of the entire exon and the generation of a new exonic junction between exon12 and exon 14 (B).
