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

From the Departments of Medical Genetics (Drs. Marques-de-Faria and Lopes-Cendes, F.R. Torres) and Neurology (Drs. Montenegro, Guerreiro, and Cendes), University of Campinas–UNICAMP, Brazil.

Address correspondence and reprint requests to Dr. Iscia Lopes-Cendes, Department of Medical Genetics, University of Campinas–UNICAMP, Campinas, SP, Brazil, 13084-971; e-mail: icendes{at}unicamp.br

The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) and subcortical band heterotopia (SBH). A 1385AC 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.

Received June 18, 2003. Accepted in final form September 24, 2003.

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