Fig. 1.

Functional effects of PRDM5 mutations. Western blot using antibody PRDM5 Ab2 in skin fibroblasts from patients P1 with deletion of exons 9–14 and P3 with p.Arg590* (described by Burkitt-Wright et al. [4]), and an unaffected age-matched control (WT). The in-frame deletion of exons 9–14 (P1) produces a smaller protein of approximately 45 kDa that is consistent with the predicted mass. The p.Arg590* nonsense mutation is in the last exon of PRDM5 and results in a protein of approximately 70 kDa, consistent with the predicted mass of the PRDM5 protein resulting from the truncated transcript. The WT protein from the unaffected control gives a band of the expected mass (78 kDa). A non-specific band at 60 kDa is present in all samples. P4 protein from a patient with the presumed null mutation p.Glu134* does not produce any bands other than the non-specific band at 60 kDa