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. 2014 Oct 16;100(1):E114–E118. doi: 10.1210/jc.2014-3636

Figure 1.

Figure 1.

A, Sequencing of peripheral blood DNA showing the KCNJ5 c.433G>C substitution resulting in the p.Glu145Gln (p.E145Q) mutation in the index case, but not in the parents. B, Pedigree of kindred with germline KCNJ5 mutation; affected individual is shown as filled symbol. C, CYP11B2 and NR4A2 gene expression study in HAC15 adrenocortical cells overexpressing empty expression vectror (Ctrl) or human wild-type (WT) KCNJ5 (KCNJ5 WT) or KCNJ5 cDNA encoding the p.Glu145Gln substitution (KCNJ5E145Q). Gene expression levels were quantified by TaqMan real-time PCR using glyceraldehyde-3-phosphate dehydrogenase (GAPDH) as endogenous control. Each bar represents the mean ± SD of relative fold change (over KCNJ5 WT) of gene expression in four independent experiments. Each assay was performed in triplicate.*, P < .05 compared with KCNJ5 WT. CYP11B2 = cytochrome P450, family 11, subfamily B, polypeptide 2; NR4A2, nuclear receptor subfamily 4, group A, member 2.