Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
XB-ART-41847
Genet Test Mol Biomarkers 2010 Apr 01;142:255-7. doi: 10.1089/gtmb.2009.0148.
Show Gene links Show Anatomy links

Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.

Scheper GC , van Berkel CG , Leisle L , de Groot KE , Errami A , Jentsch TJ , Van der Knaap MS .


???displayArticle.abstract???
Mutations in the gene MLC1 are found in approximately 80% of the patients with the 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.

???displayArticle.pubmedLink??? 20187760
???displayArticle.link??? Genet Test Mol Biomarkers


Species referenced: Xenopus
Genes referenced: clcn2 mlc1