Fig. 3: RNA expression (JAG1) and copy number (NOTCH2) is reduced in patient cell lines harboring novel pathogenic variants. | Genetics in Medicine

Fig. 3: RNA expression (JAG1) and copy number (NOTCH2) is reduced in patient cell lines harboring novel pathogenic variants.

From: Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Fig. 3

(a) Droplet digital polymerase chain reaction (ddPCR) performed on complementary DNA (cDNA) made from RNA extracted from lymphoblastoid cell lines of affected individuals showing reduced JAG1 gene expression in the individual with the promoter variant (proband 11) as well as the individual with the inversion (proband 12) and his affected father (proband 12-F), who also has the inversion. Parental samples were not available for proband 11. The negative control is the average of four unaffected individuals with no pathogenic JAG1 variant. An individual with a pathogenic frameshift variant (c.2122_2125del) that is predicted to truncate the JAG1 protein was included as a positive control. Two separate primer/probe sets were used for confirmation, one designed in exon 1 and one designed to cross exons 25–26. Values for all samples were normalized to the internal control, TBP. Error bars for the negative control are plotted as standard deviation. (b) ddPCR showing NOTCH2 copy number in proband 10 and her unaffected parents.

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