title: Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.
abstract: In type I or classical lissencephaly, two genetic causes, namely the LIS1 gene mapping at 17p13.3 and the DCX (doublecortin on X) gene mapping at Xq22.3 are involved. These are considered to act during corticogenesis on radial migratory pathways. The prevailing view is that heterozygous mutations in the LIS1 gene and hemizygous mutations in the DCX gene produce similar histological pattern. The present detailed neuropathological study in two unrelated fetuses with respectively a mutation in the LIS1 and the DCX genes do not confirm this view. In LIS1 mutation, the cortical ribbon displays a characteristic inverted organization, also called "four layered cortex" while in DCX mutation, the cortex displays a roughly ordered "six layered" lamination. Our hypothesis is that mutations of the LIS1 and DCX genes, may not affect the same neuronal arrangement in the neocortex. Because the pathology of proven XLIS is rarely documented, further detailed neuropathological analysis in other cases identified through molecular study would be of a great help in the recognition of neuronal population involved in these migrational disorders and their underlying molecular mechanism.
authors.affiliation: Département de Génétique, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
authors.forename: Géraldine
authors.initials: G
authors.lastname: Viot
authors.forename: Pascale
authors.initials: P
authors.lastname: Sonigo
authors.forename: Isabelle
authors.initials: I
authors.lastname: Simon
authors.forename: Brigitte
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: Frédéric
authors.initials: F
authors.lastname: Chadeyron
authors.forename: Cherif
authors.initials: C
authors.lastname: Beldjord
authors.forename: Julia
authors.initials: J
authors.lastname: Tantau
authors.forename: Jelena
authors.initials: J
authors.lastname: Martinovic
authors.forename: Chantal
authors.initials: C
authors.lastname: Esculpavit
authors.forename: Francis
authors.initials: F
authors.lastname: Brunelle
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: Férechté
authors.initials: F
authors.lastname: Encha-Razavi
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000028:Abortion, Induced; D019943:Amino Acid Substitution; D000650:Amnion / Q000166:cytology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002478:Cells, Cultured; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D041321:Chromosomes, Human, X; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005333:Fetus; D006579:Heterozygote; D006639:Histidine / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D020125:Mutation, Missense; D019579:Neocortex / Q000166:cytology*; D009474:Neurons / Q000166:cytology*; D009479:Neuropeptides / Q000235:genetics*
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; D006639:Histidine; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human