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

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 hemispher...

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Bibliographic Details
Published in:Human genetics 2002-03, Vol.110 (3), p.279-283
Main Authors: LEEGWATER, P. A. J, BOOR, P. K. I, YUAN, B. Q, VAN DER STEEN, J, VISSER, A, KÖNST, A. A. M, OUDEJANS, C. B. M, SCHUTGENS, R. B. H, PRONK, J. C, VAN DER KNAAP, M. S
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Base Sequence
Biological and medical sciences
Central Nervous System Cysts - genetics
Central Nervous System Cysts - pathology
Classical genetics, quantitative genetics, hybrids
Dementia, Vascular - genetics
Dementia, Vascular - pathology
DNA - genetics
DNA Mutational Analysis
Exons
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Heredodegenerative Disorders, Nervous System - genetics
Heredodegenerative Disorders, Nervous System - pathology
Human
Humans
Malformations of the nervous system
Medical sciences
Membrane Proteins - genetics
Mice
Molecular Sequence Data
Mutation
Neurology
Potassium Channels - genetics
Schizophrenia, Catatonic - genetics
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-002-0682-x