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Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation.

Authors
  • Aigner, L1
  • Fluegel, D
  • Dietrich, J
  • Ploetz, S
  • Winkler, J
  • 1 Department of Neurology, VW-Foundation Junior Group, University of Regensburg, Germany. [email protected] , (Germany)
Type
Published Article
Journal
Neuropediatrics
Publication Date
Aug 01, 2000
Volume
31
Issue
4
Pages
195–198
Identifiers
PMID: 11071144
Source
Medline
License
Unknown

Abstract

Isolated Lissencephaly Sequence (ILS) and Double-Cortex Syndrome (DC) are neuronal heterotopias caused by developmental defects in neuronal precursor cell migration. We report on the clinical and genetic assessment of a German pedigree with DCIILS. Affected males showed clinical symptoms typical of lissencephaly, i.e. seizures, severe mental retardation and extensive physical disability starting in the early postnatal period. Females, however, displayed a milder phenotype with epileptic seizures being the only clinical symptom of note. The MR imaging of a male ILS patient showed a smooth cortex with pachygyria, hydrocephalus and a diffuse, broad distribution of grey matter throughout the brain. In the affected female, a double cortex syndrome in the form of a subcortical bilateral band of grey matter was evident by MR imaging. The molecular and genetic basis of DC/ILS is associated with mutations in the X-linked doublecortin gene (DCX). The genetic assessment of the family revealed a novel missense mutation 211 G-->T in DCX exon 2 in affected family members. This mutation cosegregated with the clinical symptoms and resulted in a non-conservative amino acid substitution A71S. DCX is a microtubule-associated phosphoprotein and mutations in DCX might affect cytoskeletal dynamics and the regulation of cell migration.

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