Analysis of CLCN2 as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts

G.C. Scheper, C.G.M. van Berkel, L. Leisle, K.E. de Groot, A. Errami, T.J. Jentsch, M.S. van der Knaap

    Research output: Contribution to JournalArticleAcademicpeer-review

    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. © 2010, Mary Ann Liebert, Inc.
    Original languageEnglish
    Pages (from-to)255-257
    JournalGenetic Testing and Molecular Biomarkers
    Volume14
    Issue number2
    DOIs
    Publication statusPublished - 2010

    Fingerprint Dive into the research topics of 'Analysis of CLCN2 as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts'. Together they form a unique fingerprint.

    Cite this