title: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
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.
authors.affiliation: Department for Clinical Chemistry, Free University Medical Center, Amsterdam, The Netherlands.
authors.forename: P A J
authors.initials: PA
authors.lastname: Leegwater
authors.forename: P K I
authors.initials: PK
authors.lastname: Boor
authors.forename: B Q
authors.initials: BQ
authors.lastname: Yuan
authors.forename: J
authors.initials: J
authors.lastname: van der Steen
authors.forename: A
authors.initials: A
authors.lastname: Visser
authors.forename: A A M
authors.initials: AA
authors.lastname: Könst
authors.forename: C B M
authors.initials: CB
authors.lastname: Oudejans
authors.forename: R B H
authors.initials: RB
authors.lastname: Schutgens
authors.forename: J C
authors.initials: JC
authors.lastname: Pronk
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D020863:Central Nervous System Cysts / Q000235:genetics / Q000473:pathology; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D015140:Dementia, Vascular / Q000235:genetics* / Q000473:pathology; D005091:Exons; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics; D012560:Schizophrenia, Catatonic / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins; C498927:Mlc1 protein, mouse; D015221:Potassium Channels; D004247:DNA