Original Investigation

Human Genetics

, Volume 110, Issue 3, pp 279-283

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

  • P. LeegwaterAffiliated withDepartment for Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
  • , P. BoorAffiliated withDepartment for Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
  • , B. YuanAffiliated withDepartment for Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
  • , J. van der SteenAffiliated withDepartment for Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
  • , A. VisserAffiliated withDepartment for Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
  • , A. KönstAffiliated withDepartment for Clinical Chemistry, Free University Medical Center, Amsterdam, The Netherlands
  • , C. OudejansAffiliated withDepartment for Clinical Chemistry, Free University Medical Center, Amsterdam, The Netherlands
  • , R. SchutgensAffiliated withDepartment for Clinical Chemistry, Free University Medical Center, Amsterdam, The Netherlands
  • , J. PronkAffiliated withDepartment for Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
    • , M. van der KnaapAffiliated withDepartment for Child Neurology, Free University Medical Center, Amsterdam, The Netherlands

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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 MLC1 gene in catatonic schizophrenia and the possible function of the MLC1 protein as a cation channel are discussed.