Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.
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.
Torres
F R
FR
Department of Medical Genetics, University of Campinas-UNICAMP, Brazil.
Montenegro
M A
MA
Marques-De-Faria
A P
AP
Guerreiro
M M
MM
Cendes
F
F
Lopes-Cendes
I
I
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009421:Nervous System Malformations / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
D008869:Microtubule-Associated Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human