LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

摘要: Classical lissencephaly (LIS) is a neuronal migration disorder resulting in brain malformation, epilepsy and mental retardation. Deletions or mutations of LIS1 on 17p13.3 XLIS ( DCX ) Xq22.3-q23 produce LIS. Direct DNA sequencing was performed 25 children with sporadic LIS no deletion by fluorescence situ hybridization. Mutations were found n = 8) Southern blot 2) total 10 patients (40%) both sexes five males (20%). Combined previous data, deletions these two genes account for approximately 76% isolated These data demonstrate that cause the majority of, though not all, human The predicted to result protein truncation six eight splice site two, all which disrupt one more seven WD40 repeats contained protein. Point identified C-terminal serine/proline-rich region as potentially important function. included genotype-phenotype analysis 32 subjects other genes. Whereas malformation due severe over parietal occipital regions, produced reverse gradient, frontal cortex. distinct patterns suggest may be part overlapping, but distinct, signaling pathways promote migration.