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. Author manuscript; available in PMC: 2019 Dec 1.
Published in final edited form as: Mol Genet Metab. 2018 Sep 7;125(4):351–358. doi: 10.1016/j.ymgme.2018.09.004

Figure 1: Genetics and IFN scores in individuals with AGS.

Figure 1:

(A). The distribution of molecular results is shown. (B). Cardiac evaluation within the AGS cohort is shown by genotype (white=ECHO unavailable or not done; grey=no PH detected; black=PH present). (C). IFN signaling gene (ISG) scores were calculated and an IFN signature was derived for all AGS affected individuals in the MDBP registry for whom blood samples were available (180 AGS samples and 104 control samples). Across all genotypes of AGS, ISG scores were significantly increased compared to control samples (by Mann-Whitney all p<0.0001 except for RNASEH2A, p=0.001). (D) Individuals with IFIH1 variants had higher ISGs compared to other AGS genotypes (Mann-Whitney all p<0.0001).