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| Item Type: | Article |
|---|---|
| Title: | Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts |
| Creators Name: | Scheper, G.C. and van Berkel, C.G. and Leisle, L. and de Groot, K.E. and Errami, A. and Jentsch, T.J. and Van der Knaap, M.S. |
| Abstract: | Mutations in the gene MLC1 are found in approximately 80% of the patients with inherited childhood white matter disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). Genetic linkage studies have not led to the identification of another disease gene. We questioned whether mutations in CLCN2, coding for the chloride channel protein 2 (ClC-2), are involved in MLC. Mice lacking this protein develop white matter abnormalities, which are characterized by vacuole formation in the myelin sheaths, strikingly similar to the intramyelinic vacuoles in MLC. Sequence analysis of CLCN2 at genomic DNA and cDNA levels in 18 MLC patients without MLC1 mutations revealed some nucleotide changes, but they were predicted to be nonpathogenic. Further, in electrophysiological experiments, one of the observed amino acid changes was shown to have no effect on the ClC-2-mediated currents. In conclusion, we found no evidence suggesting that the CLCN2 gene is involved in MLC. |
| Keywords: | Alternative Splicing, Chloride Channels, Complementary DNA, Genetic Predisposition to Disease, Membrane Proteins, Messenger RNA, Mutant Proteins, Mutation, Oocytes, Recombinant Proteins, Vascular Dementia, Animals, Mice, Xenopus |
| Source: | Genetic Testing and Molecular Biomarkers |
| ISSN: | 1945-0265 |
| Publisher: | Mary Ann Liebert |
| Volume: | 14 |
| Number: | 2 |
| Page Range: | 255-257 |
| Date: | April 2010 |
| Official Publication: | https://doi.org/10.1089/gtmb.2009.0148 |
| PubMed: | View item in PubMed |
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