Figure 5 | Scientific Reports

Figure 5

From: Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots

Figure 5

FXP concentration is reduced in males and females with FXS. (a) Males with FXS have significantly lower FXP concentrations than PMC and TDC males (Kruskal–Wallis analysis with Dunn’s multiple comparisons; H(3) = 64.40 , p(FXS vs PMC) < 0.0001, p(FXS vs TDC) < 0.0001). In our sample, there is no significant difference between FXP concentrations in PMC and TDC males (Kruskal–Wallis analysis with Dunn’s multiple comparisons; H(3) = 64.40 , p > 0.9999). (b) Females with FXS had significantly lower FXP than PMC and TDC females (Kruskal–Wallis analysis with Dunn’s multiple comparisons; H(3) = 22.12, p(FXS vs PMC) < 0.0001, p(FXS vs TDC) = 0.0101). There was no significant difference between female PMC and TDC (Kruskal–Wallis analysis with Dunn’s multiple comparisons; H(3) = 22.12, p > 0.9999). Note that data shown in (a, b) are the same as in 4a. (c) Fully methylated FM males with FXS have significantly lower FXP concentration than males expressing mosaicism (Mann–Whitney U = 68.5, n1 = 36 n2 = 20, p < 0.0001 two-tailed). (d) There is no significant difference between fully methylated FM females with FXS and females with methylation mosaicism (Mann–Whitney U = 84, n1 = 20 n2 = 9, p = 0.7992 two-tailed). (e) Higher resolution of data for fully methylated FM males with FXS illustrates that they express varying levels of FXP, ranging from undetectable to over 6 pM. Mean reported with error bars representing SEM. FXP Fragile X Protein, FXS Fragile X Syndrome, DBS Dried Blood Spot, PMC Premutation Carriers, TDC Typically Developing Controls, FM Full Mutation, SEM Standard Error of the Mean, NS Not Significant; ****Indicates p < 0.0001; *Indicates p < 0.05.

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