Table 2.
Prevalence (%) of the most common SLO-causing DHCR7 gene mutations in Europe
| Country (no. of alleles): | Great Britain (44) | Poland (30) | Germany and Austria (44) | Italy (20) | Spain (40) | Czech and Slovak Republics (20) | Hungary (24) | |
|---|---|---|---|---|---|---|---|---|
| p.Trp151* | 2.3 | 33.3 | 18.2 | 5.0 | 2.5 | 50.0 | 25.0 | |
| p.Val326Leu | 2.3 | 23.3 | 18.2 | 0 | 0 | 25.0 | 12.5 | |
| p.Arg352Trp | 0 | 13.3 | 6.8 | 5.0 | 2.5 | 0 | 0 | |
| p.Leu157Pro | 0 | 6.7 | 2.3 | 0 | 0 | 5.0 | 0 | |
| c.964–1G>C | 34.1 | 3.3 | 20.5 | 20.0 | 30.0 | 5.0 | 16.7 | |
| p.Arg446Gln | 0 | 3.3 | 0 | 0 | 7.5 | 5.0 | 0 | |
| p.Arg404Cys | 9.1 | 0 | 0 | 5.0 | 0 | 0 | 0 | |
| p.Thr93Met | 6.8 | 0 | 0 | 45.0 | 23.0 | 0 | 0 | |
| p.Gly410Ser | 2.3 | 0 | 2.3 | 0 | 7.5 | 10.0 | 0 | |
| p.Phe302Leu | 2.3 | 0 | 0 | 0 | 10.0 | 0 | 0 | |
| p.Ser397Leu | 0 | 0 | 0 | 0 | 0 | 0 | 8.3 | |
| p.Tyr432Cys | 0 | 0 | 0 | 0 | 0 | 0 | 8.3 | |
| Sum above | 59.1 | 83.3 | 68.2 | 80.0 | 83.0 | 100.0 | 70.8 | |
| Reference1 | a | a | a | b | b | c | this study | |