Table 1.
Genetic background, 7-DHC and cholesterol levels in the Hungarian SLO patients
| Patients | Genotype | Effect on protein level | Severity scorea | 7-DHC, mg/1 (<0.15 mg/l)b | Cholesterol, mM (0–1 years: >1.3 mM; >1 years: 2.8–5.2 mM)b |
|---|---|---|---|---|---|
| 1 | [c.964-lG>C] + [c.964-lG>C] | frameshift | 55-S | 109 | 0.31 |
| 2 | [c.964-lG>C] + [c.1190C>T] | frameshift/p.Ser397Leu | 50-T | 302 | 1.4 |
| 3 | [c.964-lG>C] + [c.1190C>T] | frameshift/p.Ser397Leu | 40-T | 253 | 1.08 |
| 4 | [c.964-lG>C] + [c.1190C>T] | frameshift/p.Ser397Leu | 55-S | 174 | 0.58 |
| 5 | [c.452G>A] + [c.740C>T] | p.Trp151 */p.Ala247Val | 10-M | 130 | 3.47 |
| 6 | [c.976G>T] + [c.374A>G] | p.Val326Leu/p.Tyrl25Cys | 40-T | 205 | 2.1 |
| 7 | [c.730G>A] + [c.976G>T] | p.Gly244Arg/p.Val326Leu | 40-T | 155 | 0.72 |
| 8 | [c.326T>C] + [c.452G>A] | p.Leul09Pro/p.Trpl51* | 30-T | 126 | 0.77 |
| 9 | [c.1295A>G] + [c.1328G>A] | p.Tyr432Cys/p.Arg443His | 15-M | 217 | 2.0 |
| 10 | [c.452G>A] + [c.976G>T] | p.Trpl51*/p.Val326Leu | 20-T | 156 | 1.57 |
| 11 | [c.725G>A] + [c.452G>A] | p.Arg242His/p.Trpl51* | 55-S | 215 | 0.8 |
| 12 | [c.452G>A] + [c.1295A>G] | p.Trpl51*/p.Tyr432Cys | 20-T | 274 | 1.47 |
| 13 | [c.452G>A] + [?] | p.Trpl51*/? | 15-M | 87 | 2.44 |
a
M = Mild; S = severe; T = typical.
b
Normal reference values are shown for comparison.