Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia

Neurology. 2004 Mar 9;62(5):799-802. doi: 10.1212/01.wnl.0000113725.46254.fd.

Abstract

The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) and subcortical band heterotopia (SBH). A 1385A-->C mutation was found in the LIS1 gene in one patient with LIS more severe than expected for individuals with missense mutations in LIS1. The authors believe that the site of the mutation, present in a functionally critical region of the protein, could explain the unusual severe phenotype found in this patient.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • Adolescent
  • Adult
  • Cerebral Cortex / abnormalities*
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Male
  • Microtubule-Associated Proteins / genetics*
  • Mutation, Missense
  • Nervous System Malformations / genetics*
  • Nervous System Malformations / pathology
  • Phenotype

Substances

  • Microtubule-Associated Proteins
  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • PAFAH1B1 protein, human