Table 1.
Overview of genetic, clinical and sub-diffraction phenotypes of patient fibroblasts.
| PEX gene | Mutation | Catalase localization | Ghost size (rel. to wt) | PMP70 abundance (±SD) (rel. to wt) | Peroxisome number per cell (rel. to wt) | Clinical phenotype |
|---|---|---|---|---|---|---|
| PEX1 −/− | G843D | CYTO | 2.0 | 1.07 ± 0.39 | ~24% | Mild55,61 |
| PEX1 −/− | I700fsX42 | CYTO | 1.57 | 0.84 ± 0.25 | ~40% | Severe61 |
| PEX6 −/− | S232HfsX15 | CYTO | 1.86 | n.d. | ~30% | Intermediate50 |
| PEX13 −/− | W313G | CYTO | 1.65 | 0.62 ± 0.16 | ~66% | Mild50 |
| PEX10 −/− | L272fs | CYTO | 1.53 | 0.47 ± 0.06 | ~23% | Severe (this study) |
| PEX2 −/− | F278LfsX3 | CYTO | 1.42 | 0.39 ± 0.02 | ~20% | Severe50 |
| PEX5 −/− | Q133X | CYTO | 1.25 | n.d. | ~43% | Severe (this study) |
| PEX12 −/+ | L123del | CYTO/PX | 1.19 | 0.65 ± 0.04 | ~72% | Mild (this study) |
| Control | — | PX | 1 | 1 | 100% | Healthy |
CYTO cytoplasmic; PX peroxisomal. The PEX12−/+ human skin fibroblasts present with a heterogeneous/mosaic catalase staining pattern with some cells showing peroxisomal localization of catalase and some with Zellweger-like cytoplasmic localization. Clinical phenotype: Severe (<1 year survival after birth), Intermediate (>1 year), Mild (>2 years). n.d. not determined.