Fig. 3

RPS4X abundance is reduced in cells from patients carrying the p.(Arg221Gln) variant.
A, B Western blot analyses of RPS4X in patient derived fibroblasts show protein abundance is reduced ~30% in the affected proband compared to the unaffected male sibling. C, D Western blot analyses of EBV-transformed lymphoblasts (generated from the proband and his unaffected male sibling) show a similar a reduction in RPS4X abundance. In this case the reduction did not reach statistical significance, likely due to variability in growth of lymphoblasts cultures. E Quantitative PCR performed in fibroblasts showed no difference in RPS4X transcript abundance between the affected and unaffected male sibling. F Similarly quantitative PCR performed on lymphoblasts also showed no difference in the RPS4X or RPS4Y transcript abundances. For all experiments n = 3 biological replicates. Error = S.E.M, Significance was calculated by the Student’s t test where *p < 0.05 and ***p < 0.001.