Fig. 3
From: Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH
Minigene analysis for NPR2 c.2643G > A. (A) Agarose gel electrophoresis of the PCR products. The forward and reverse primers were designed based on the SD and SA sequences and designed for PCR amplification of the cDNA sequence of interest. Lane 1: Marker; Lane 2: empty vector; Lane 3: WT, for which the sequencing of the PCR product revealed that it included the exons SD and SA of pSPL3 and exons 15, 16, 17, and 18 of NPR2; and Lane 4: The splice site variant c.2643G > A disrupted the normal splicing, resulting in the deletion of exons 17. (B) Schematic overview of the wild-type (WT) minigenes derived from pSPL3. (C) Change in splicing of NPR2 mRNA exons after a G-A mutation