Referenced in: none

Automatically associated channels: ClC2 , ClC4

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

Authors: Gert C Scheper, Carola G M van Berkel, Lilia Leisle, Koen E de Groot, Ab Errami, Thomas J Jentsch, Marjo S van der Knaap

Journal, date & volume: Genet Test Mol Biomarkers, 2010 Apr , 14, 255-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20187760

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.