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

LIS1 and XLIS ( DCX ) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation