Patient-derived hiPSC neurons with heterozygous CNTNAP2 deletions display altered neuronal gene expression and network activity

Variants in , a member of the neurexin family of genes that function as cell adhesion molecules, have been associated with multiple neuropsychiatric conditions such as schizophrenia, autism spectrum disorder and intellectual disability; animal studies indicate a role for in axon guidance, dendritic...

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Bibliographic Details
Published in:NPJ schizophrenia 2017, Vol.3, p.35
Main Authors: Flaherty, Erin, Deranieh, Rania M, Artimovich, Elena, Lee, Inkyu S, Siegel, Arthur J, Levy, Deborah L, Nestor, Michael W, Brennand, Kristen J
Format: Article
Language:English
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Summary:Variants in , a member of the neurexin family of genes that function as cell adhesion molecules, have been associated with multiple neuropsychiatric conditions such as schizophrenia, autism spectrum disorder and intellectual disability; animal studies indicate a role for in axon guidance, dendritic arborization and synaptogenesis. We previously reprogrammed fibroblasts from a family trio consisting of two carriers of heterozygous intragenic deletions into human induced pluripotent stem cells (hiPSCs) and described decreased migration in the neural progenitor cells (NPCs) differentiated from the affected carrier in this trio. Here, we report the effect of this heterozygous intragenic deletion in on global gene expression and neuronal activity in the same cohort. Our findings suggest that heterozygous deletions affect genes involved in neuronal development and neuronal activity; however, these data reflect only one family trio and therefore more deletion carriers, with a variety of genetic backgrounds, will be needed to understand the molecular mechanisms underlying deletions.
ISSN:2334-265X
2334-265X