Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
- PMID: 11935341
- DOI: 10.1007/s00439-002-0682-x
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
Erratum in
- Hum Genet 2002 Jul;111(1):114
Abstract
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurologic disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal and swollen white matter of the cerebral hemispheres and the presence of subcortical cysts in the anterior-temporal region and often also in the frontoparietal region. Mutations in the MLC1 gene, encoding a putative membrane protein, have been recently identified as a cause for MLC. Here, we describe 14 new mutations in 18 patients. Two identified polymorphisms lead to alterations of amino acid residues. The role, suggested by others, of a mutation in the MLC1gene in catatonic schizophrenia and the possible function of the MLC1 protein as a cation channel are discussed.
Comment in
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A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).J Hum Genet. 2011 Mar;56(3):173. doi: 10.1038/jhg.2011.5. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307857 No abstract available.
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