Table 2.
CLCN2 mutations of the reported patients with CLCN2-related leukoencephalopathy
| Case | Exon | DNA | Protein | Genotype |
|---|---|---|---|---|
| 1 | 1 | c.61dup | p.Leu21ProfsTer27 | Homozygous |
| 2 | – | c.1412G > A | p.Arg471His | Homozygous |
| 3 | – | – | p.Glu475LysfsTer79 | Homozygous |
| 4 | – | – | p.Leu435ArgfsTer7 | Compound heterozygous |
| 5 | 16 | c.1769A > C | p.His590Pro | Homozygous |
| 6 | – | c.1113delinsACTGCTCAT | p.Ser375CysfsX6 | Homozygous |
| 7 | – | c.1507G > A | p.Gly503Arg | Homozygous |
| 8 | 15 | c.709G > A | p.Trp570X | Homozygous |
| 9 | 15 | c.1709G > A | p.Trp570X | Homozygous |
| 10 | 4 | c.430_435del | p.Leu144_Ile145del | Homozygous |
| 11 | 11; 2 to part of 6 | c.1143delT; c.64–1107_639del | p.Gly382AlafsX34; p.Met22LeufsX5 | Heterozygous; heterozygous |
| 12 | 14 | c.1499C > T | p.Ala500Val | Homozygous |
| 13 | 8 | c.828dupG | p.Arg277AlafsX23 | Homozygous |
| 14 | 20 | c.2257C > T | p.Arg753Ter | Homozygous |
1. Hoshi et al. [2018]
2–4. Zeydan et al. [2017]
5. Giorgio et al. [2017]
6. Hanagasi et al. [2015]
7. Di Bella et al. [2014]
8–13. Depienne et al. [2013]
14. The case of our study