Figure 5.

Mutation of IPC Genes May Underlie Human Cortical Malformation and Intellectual Disability

(A) Graphical representation of human phenotype ontology for TBR2⁺ IPCs genes showing the top ten phenotypes and others that follow in ranking.

(B, D, and F) List of the genes identified in IPCs with phenotypic implications for intellectual disabilities, microcephaly, and corpus callosum agenesis, respectively.

(C, E, and G) Respective array of micrographs showing in situ hybridization of examples of genes (highlighted red in the adjoining gene list) with distinctive expression in the developing mouse cortical subventricular zone, and whose dysfunction can lead to abnormal cortical structure and function. CC, corpus callosum. Magnified cortical region is shown by a red box in (C). Scale bar, 100 μm.

(H) Schema showing examples of regulatory factors involved in transcription regulation, signaling pathways in progenitor cells, and those involved in the cell cycle and chromosome segregation that drive cellular processes such as proliferation, differentiation, and apoptosis.