Human Genetics

, Volume 110, Issue 3, pp 279–283

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

  • P. Leegwater
  • P. Boor
  • B. Yuan
  • J. van der Steen
  • A. Visser
  • A. Könst
  • C. Oudejans
  • R. Schutgens
  • J. Pronk
  • M. van der Knaap
Original Investigation

DOI: 10.1007/s00439-002-0682-x

Cite this article as:
Leegwater, P., Boor, P., Yuan, B. et al. Hum Genet (2002) 110: 279. doi:10.1007/s00439-002-0682-x

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.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • P. Leegwater
    • 1
  • P. Boor
    • 1
  • B. Yuan
    • 1
  • J. van der Steen
    • 1
  • A. Visser
    • 1
  • A. Könst
    • 2
  • C. Oudejans
    • 2
  • R. Schutgens
    • 2
  • J. Pronk
    • 1
  • M. van der Knaap
    • 1
  1. 1.Department for Child Neurology, Free University Medical Center, Amsterdam, The NetherlandsThe Netherlands
  2. 2.Department for Clinical Chemistry, Free University Medical Center, Amsterdam, The NetherlandsThe Netherlands
  3. 3.Department for Human Genetics, Free University Medical Center, Amsterdam, The NetherlandsThe Netherlands
  4. 4.Department of Clinical and Human Genetics, Free University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The NetherlandsThe Netherlands