Table 2.
Serum levels of PDGF-BB.
| PDGF-BB (pg/mL) | DNA | Protein | PolyPhen-2 | ||
|---|---|---|---|---|---|
| PDGFB | |||||
| Case 1 | 57/M | 1900 | c.160 + 2T > A | — | Not applicable |
| Case 2 | 16/F | 1340 | c.457 − 1G > T | — | Not applicable |
| Case 3 | 71/M | 1730 | c.33_34delCT | p.Cys12Leufs*20 | Not applicable |
| Case 4 | 53/F | NE | c.342_343insG | p.Asn115Glnfs*52 | Not applicable |
| Average (means ± SD) | 1657 ± 287 | ||||
| SLC20A2* | |||||
| Yamada et al. Case 1 | 64/F | 4720 | c.1909A > C | p.Ser637Arg | Probably damaging |
| Yamada et al. Case 3 | 69/F | 3370 | c.344C > T | p.Thr115Met | Probably damaging |
| Yamada et al. Case 5 | 24/M | 4370 | c.1399C > T | p.Arg467Xaa | Not applicable |
| Average (means ± SD) | 4153 ± 700 | ||||
| Controls | |||||
| Control 1 | 24/M | 5030 | — | — | — |
| Control 2 | 29/M | 3890 | — | — | — |
| Control 3 | 33/F | 5690 | — | — | — |
| Average (means ± SD) | 4870 ± 910 | ||||
Abbreviations: NE = not examined.
*Yamada M et al. Neurology 2014; 82: 705–712.