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Trends Neurosci. 2016 May;39(5):290-299. doi: 10.1016/j.tins.2016.03.001. Epub 2016 Mar 28.

Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders.

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Department of Psychiatry, McGill University, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada; Integrated Program in Neuroscience, McGill University, Montreal, QC, Canada; McGill Group for Suicide Studies, Douglas Hospital Research Institute, Montreal, QC, Canada. Electronic address:


Several lines of evidence suggest that proliferation and differentiation in neural stem cells (NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most genes with truncating mutations are implicated in NSC proliferation and differentiation (e.g., MBD5, CDKL5, and MECP2). Similarly, reciprocal deletion/duplication copy-number variants (CNVs), such as 1q21.1 and 16p11.2, are inversely correlated with head size. In addition, pathways such as MAPK, mTOR, and RAS, which are important in cancer, a disease of uncontrolled cell proliferation, are implicated in NDDs. These deficits are a measurable output of patient-derived induced neural progenitor cells, and may represent a diagnostic tool and a possible clinical intervention point for molecular therapies, irrespective of genotype.


cancer; differentiation; induced pluripotent stem cell; macrocephaly; microcephaly; neural stem cells; neurodevelopmental disorders; proliferation

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