Skip to main content
. 2023 Mar 15;32(12):2084–2092. doi: 10.1093/hmg/ddad035

Figure 2.

Figure 2

(A) Sanger sequencing chromatograms from (i) AII:1 and (ii) BII:1 confirming PYROXD1 variants on gDNA. (B) RNA studies. (i) Schematic of exons 3–12 of PYROXD1 mRNA with location of variants denoted by magenta (AII:1) or blue (BII:1) asterisks, and primers by arrows. (ii) and (iv) Agarose gel electrophoresis for all primer pairs described, including no template control (NTC) for each. Sanger sequencing chromatograms for (iii) AII:1 showing the detection of two alleles following CHX inhibition of NMD and for (v) BII:1 showing normal splicing of the p.E496del bearing allele (upper band) and in-frame exon 11 skipping from the c.1254+1delG allele (lower band) that is not subject to NMD.