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Table 2 CLCN2 mutations of the reported patients with CLCN2-related leukoencephalopathy

From: CLCN2-related leukoencephalopathy: a case report and review of the literature

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. 1. Hoshi et al. [2018]
  2. 2–4. Zeydan et al. [2017]
  3. 5. Giorgio et al. [2017]
  4. 6. Hanagasi et al. [2015]
  5. 7. Di Bella et al. [2014]
  6. 8–13. Depienne et al. [2013]
  7. 14. The case of our study