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. 2019 Oct 17;27(2):334–342. doi: 10.1111/ene.14082

Figure 3.

Figure 3

Functional analyses and pathogenicity of variants identified in family 1. (a) Reverse transcription polymerase chain reaction in compound heterozygous missense case F1‐III:1 showed absent or severely reduced NKX6‐2 compared to control; glyceraldehyde 3‐phosphate dehydrogenase (GAPDH) was used as a loading control. (b) Reduced NKX6‐2 protein levels confirmed by western blot in individual F1‐III:1. Total protein lysate extracted from human fibroblasts assessed by sodium dodecyl sulfate polyacrylamide gel electrophoresis and analysed by western blotting using anti‐NKX6‐2 antibody (left panel). (c) Densitometry analysis shows significant reduction in NKX6‐2 protein levels in fibroblasts harbouring the NKX6‐2 missense mutation compared to control cells. ***P < 0.01, replicate values, mean and SD are shown; one‐way anova with Bonferroni post hoc test.